Explorez tous les épisodes du podcast DNA Today: A Genetics Podcast

What happens when traditional genetic testing leaves patients and families without answers? Emerging technologies like optical genome mapping (OGM) and long-read sequencing are expanding what laboratories can detect, from complex structural variants to difficult-to-analyze repetitive regions of the genome. These advances are already changing clinical testing strategies and helping uncover diagnoses that previously remained out of reach.

In this episode, we welcome back Dr. Nikhil Sahajpal, Assistant Laboratory Director at Greenwood Genetic Center (GGC), who previously joined us in Episode 362 to introduce optical genome mapping. Now, nearly two years after GGC began offering OGM clinically, Dr. Sahajpal shares how the technology is being integrated into rare disease diagnostics, including additional diagnostic findings in at least 5% of previously unsolved cases.

The conversation takes a closer look at facioscapulohumeral muscular dystrophy (FSHD), a genetically complex condition involving D4Z4 repeat contractions, epigenetic changes, and inappropriate DUX4 expression. Dr. Sahajpal explains how OGM and short-read sequencing can work together to distinguish FSHD1 from FSHD2, and why the laboratory is evaluating long-read sequencing as a potential way to streamline this testing.

We also explore targeted applications of OGM and long-read sequencing, including clarifying DMD duplications, mapping structural variant breakpoints, and determining whether variants are in cis or trans. Finally, Dr. Sahajpal discusses where long-read genome sequencing fits into the rare disease diagnostic workflow and whether a more comprehensive, unified genetic test could eventually reduce the need for multiple testing platforms.

Episode Discussion Topics

• How optical genome mapping compares with karyotyping, FISH, and chromosomal microarray
• Greenwood Genetic Center's clinical experience with OGM and its additional diagnostic yield in previously unsolved rare disease cases
• When OGM may serve as a reflex test following negative genome sequencing
• The genetics of FSHD1, including D4Z4 repeat contractions, permissive haplotypes, and DUX4 expression
• Why chromosome 4 and chromosome 10 repeat regions complicate FSHD testing
• How OGM and short-read sequencing contribute to distinguishing FSHD1 and FSHD2
• The potential for long-read sequencing to assess repeat size, sequence variants, and DNA methylation
• When long-read genome sequencing may be appropriate for patients with broad or nonspecific phenotypes
• How targeted OGM can clarify DMD duplications and change carrier screening interpretation
• Using targeted long-read sequencing to phase variants in recessive conditions without parental samples
• The limitations of phenotype-driven variant analysis and the future of comprehensive genomic testing

Resources & Links

• Greenwood Genetic Center
  • OGM Complete
  • OGM Targeted 
  • Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) NGS Panel
  • FSHD1
  • Long-read Sequencing-Trio Analysis 
  • Long-read Sequencing-Targeted Analysis
• Sahajpal Completes Laboratory Fellowship at GGC and Joins Faculty
• Sahajpal NS, Mondal AK, Singh H, Vashisht A, Ananth S, Saul D, Hastie AR, Hilton B, DuPont BR, Savage NM, Kota V, Chaubey A, Cortes JE, Kolhe R. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824; PMCID: PMC10296552.

Relevant DNA Today Podcast Episode

• #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests (with guest Dr. Nikhil Sahajpal)
• #279 Reflecting on 50 Years of Greenwood Genetic Center
• #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium
• #182 Eric Green on the Complete Human Genome Project 
• #145 Greenwood Genetic Center on Epigenetics

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

How can variants in the same gene cause life-threatening disease in infancy for some individuals, while others experience mild symptoms or remain asymptomatic? Hypophosphatasia (HPP) challenges traditional expectations about genetic inheritance, with both autosomal dominant and autosomal recessive forms and a remarkably broad spectrum of clinical presentations.

In this episode, recorded in person in Nashville, our guest is Dr. Kathryn Dahir, Professor of Medicine in the Division of Diabetes, Endocrinology, and Metabolism at Vanderbilt University Medical Center and Director of the Program for Metabolic Bone Disorders. Drawing on decades of experience caring for patients with rare skeletal conditions, Dr. Dahir explores the complex genetics of HPP and why understanding a patient's clinical presentation is just as important as interpreting their genetic test results.

The conversation begins with a patient case that challenged Dr. Dahir's understanding of HPP. Initially treated for osteoporosis, the patient experienced recurrent fractures and worsening symptoms despite treatment. Further investigation revealed impaired bone mineralization, low alkaline phosphatase (ALP), and a single ALPL variant, illustrating how individuals with one affected copy of the gene can experience significant disease. Dr. Dahir explains how the ALPL gene encodes tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme essential for healthy bone mineralization, and how disruption of its activity contributes to the manifestations of HPP.

We explore the differences between autosomal dominant and autosomal recessive inheritance, the challenges of predicting disease severity from genetic testing alone, and why even relatives carrying the same ALPL variant may have very different symptoms. Dr. Dahir discusses the importance of identifying variants in cis or trans, recognizing deletions and duplications, evaluating variants of uncertain significance, and considering how genetic modifiers, environmental exposures, and coexisting conditions can influence a patient's presentation.

Finally, we discuss the evolving landscape of HPP genetic testing, including the importance of longitudinal follow-up, resources such as the global ALPL variant database, and ongoing efforts to improve variant classification. As genomic testing becomes increasingly accessible, this conversation highlights both its potential to improve rare disease diagnosis and the limitations of using genetics alone to predict an individual's future health.

Episode Discussion Topics

• Dr. Dahir's clinical experience treating HPP and other rare metabolic bone disorders at Vanderbilt University Medical Center
• Why genetic testing must be interpreted alongside clinical symptoms, biochemical findings, and patient history
• A patient case illustrating how HPP can be mistaken for osteoporosis and why low alkaline phosphatase is an important diagnostic clue
• How the ALPL gene and tissue-nonspecific alkaline phosphatase (TNSALP) regulate bone mineralization
• The differences between autosomal dominant and autosomal recessive HPP and the challenges of distinguishing affected individuals from asymptomatic carriers
• Why genotype-phenotype correlations in HPP are complex, even among family members with the same genetic variant
• The importance of determining whether variants are in cis or trans and identifying deletions or duplications that some testing platforms may miss
• How modifier genes, epigenetics, medication exposures, and coexisting medical conditions may influence HPP symptoms and severity
• Interpreting variants of uncertain significance and the importance of genetic counseling, variant reclassification, and long-term follow-up
• The role of the global ALPL variant database in improving classification and understanding the clinical significance of genetic variants
• Future opportunities to identify protective genetic factors and improve predictions of disease progression

About the HPP Series

This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management.

 

This series is sponsored by Alexion. The views expressed by the host and guests are their own.

Resources & Links

• Vanderbilt University Medical Center
• Alexion, AstraZeneca Rare Disease 
• ALPL Gene Variant Database
• Soft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP.
• Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals.

Publications

• Dahir KM, Below JE, Liu J, Javid A, Wang G, Bastarache L. Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. J Bone Miner Res. 2026 Mar 2;41(3):270-281. doi: 10.1093/jbmr/zjaf176. Erratum in: J Bone Miner Res. 2026 Oct 11:zjag146. doi: 10.1093/jbmr/zjag146. PMID: 41269245; PMCID: PMC13016712. 
• Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP.
• Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056.
• Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438.
• Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10.
• Brandi ML, Khan AA, Rush ET, et al. The challenge of hypophosphatasia diagnosis in adults: Results from the HPP International Working Group Literature Surveillance. Osteoporosis International. 2024;35(3):439–449.

Relevant DNA Today Podcast Episode

• #408 Diagnosing Hypophosphatasia: Low ALP, Fractures, and Early Tooth Loss: Genetic counselor Amy Patterson kicks off our three-part hypophosphatasia series, sponsored by Alexion, exploring the clinical spectrum and diagnosis of HPP. 
• #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer: Actor Atticus Shaffer discusses living with osteogenesis imperfecta, his diagnostic and treatment experiences, and what he wants healthcare providers to understand about the condition.
• #301 Dwarfism with Colleen Gioffreda: Colleen Gioffreda shares her personal and professional perspectives on achondroplasia, skeletal dysplasias, parenting, adoption, accessibility, and advocacy.
• #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions: Dr. Fred Ushakov explains how single-gene NIPT and prenatal imaging may identify conditions including achondroplasia, osteogenesis imperfecta, and other skeletal dysplasias.
• #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains: In the first episode of our BioMarin-sponsored achondroplasia series, Dr. Janet Legare explores the genetics, clinical presentation, diagnosis, and multidisciplinary care of achondroplasia.
• #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs: In the second episode of the BioMarin-sponsored series, Dr. Ricki Carroll discusses lifelong monitoring, medical complications, care coordination, and quality of life.
• #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan: The final episode of the BioMarin-sponsored series examines vosoritide, international treatment guidelines, and the evolution of precision medicine for achondroplasia.
• #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story: Mayte Garcia reflects on her and Prince’s experience with their son Amiir’s severe skeletal and craniofacial condition, Pfeiffer syndrome type 2.
• #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida: Dr. Pradeep Bhide and Representative Adam Anderson explore how Florida’s Sunshine Genetics Act could reshape newborn sequencing, rare disease diagnosis, and the future of pediatric genomic medicine.

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

For the third year in a row, DNA Today is bringing you inside the American Society of Human Genetics (ASHG) Annual Meeting, and this year, we've taken our genetics coverage international! We're reporting from beautiful Montréal, Canada, where thousands of geneticists, researchers, clinicians, and industry leaders gathered to share the latest breakthroughs shaping the future of genomics. From cutting-edge technologies to big questions about the future of genetic medicine, there's no shortage of exciting science to unpack. And don't worry, we're bringing you all the highlights, no passport required, eh?

In this episode, host Kira Dineen takes you behind the scenes of ASHG 2026 through two special segments recorded at the conference.

First, we stop by the Nabsys booth to chat with Founder and CEO Barrett Bready, MD, about how Electronic Genome Mapping (EGM) is advancing our ability to detect structural variants. We explore how the technology compares with traditional approaches, its emerging applications in hematologic malignancies, and the latest research Nabsys is showcasing at ASHG.

For our second segment, we're live on location! DNA Today teamed up with Wiley's Advanced Portfolio to co-host a special brunch featuring a live podcast recording right from the conference. With breakfast on the table and big questions on the menu, Kira moderated a conversation with leading genetics researchers and publishing experts about the discoveries, challenges, and opportunities shaping the field. From translating genetic findings into new therapies and harnessing AI to accelerate research to fostering interdisciplinary collaboration and rethinking the role of scientific publishing, this discussion goes beyond the conference presentations to explore where genetics is headed next.

Whether you joined us in Montréal or are experiencing the conference from afar, consider this your front-row seat to some of the conversations shaping the future of genetics. We're serving up fresh science with a side of maple syrup, because when it comes to genetics, there's always more to discover, eh?

Nabsys Segment Guest 

Barrett Bready, MD is Founder and CEO of Nabsys. He is passionate about the impact that advanced technology can have on the understanding of disease as well as on its diagnosis and treatment.  He has raised $150 million to realize a new way of analyzing DNA that uses proprietary solid-state electronic nanodetectors to analyze very long molecules, with an initial focus on genomic structural variation. Barrett is an adjunct professor at Brown University where he lectures on the rapidly evolving business of life sciences. He serves as a commissioner of the I-195 Redevelopment District Commission, a major land redevelopment initiative in downtown Providence, RI with a focus on life sciences and other high-technology sectors. He has received numerous awards including, in 2011, Rhode Island Innovator of the Year, and in 2018, a career achievement award from the Warren Alpert Medical School of Brown University. Barrett graduated from the highly competitive Program in Liberal Medical Education (PLME) at Brown University where he received an M.D. and an Sc.B. in Physics and won the undergraduate physics award (the Lindsay Prize) and the Galletti Prize for physics in medicine.

Nabsys Discussion Topics

• ASHG 2026 conference highlights and a presentation on electronic genome mapping (EGM) in hematologic malignancies
• Why genomic structural variants matter in cancer and rare disease
• How traditional sequencing and cytogenetic approaches may leave gaps in detecting structural variation
• Nabsys’ electronic genome mapping as a high-resolution, top-down approach to studying genome structure
• How EGM uses electrical detection to read sequence-specific tags on long DNA molecules
• Identifying deletions, insertions, inversions, and translocations by comparing tag patterns
• How EGM relates to traditional cytogenetic methods such as FISH and karyotyping
• The nanochannel detection process and how DNA molecules affect ionic current as they pass through
• Nabsys’ relationship with Hitachi and the potential to scale the technology
• Nabsys’ goal of expanding access to structural variant detection and single-molecule insights
• ASHG posters on CRISPR-Cas9-mediated assay specificity and EGM applications for copy number variants in constitutional disorders
• The potential for EGM to combine modalities and increase diagnostic yield over time

Wiley Advanced Genetics Panelists 

Yuming Hu, PhD serves as the Editor-In-Chief for Advanced Genetics, which is a peer-reviewed, broad-scope, open-access journal dedicated to advancing gene-related research with a recently expanded scope. It includes not only human, animal, plant, and microbial genetics, genomics, and epigenomics, but also topics that employ genetic, omics technologies, bioinformatics, computational biology, and artificial intelligence as toolboxes for discovery and innovation. Dr. Hu received her B.Sc. and M.Sc. in Biotechnology from Wageningen University and her Ph.D. in Biochemistry and Biotechnology from Ghent University. She worked as a Research Assistant at the University of California, Davis, and completed a postdoctoral fellowship at Tsinghua University. She joined Wiley as a scientific editor in 2022. 

 

Nadav Ahituv, PhD is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Director of the Institute for Human Genetics at the University of California, San Francisco. He received his PhD in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, specializing in functional genomics, in the Lawrence Berkeley National Laboratory and the DOE Joint Genome Institute. His current work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. His lab was one of the co-developers of massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements. In addition, he pioneered cis-regulation therapy (CRT), the use of gene regulatory elements as therapeutic targets for haploinsufficient disorders, and adipose modulation transplantation (AMT), a novel cancer cell therapy.

 

Brandon Lê, PhD is a genetic epidemiologist deeply passionate about biomedical research and uncovering the genetic etiologies of rare human genetic disorders, as well as a science communicator experienced in translating findings from bench to bedside. He has worked in sickle cell disease (SCD), essential tremor (ET), epigenetic aging, glaucoma, and bipolar disorder (BPD), and his training is in genetic epidemiology, statistical genetics, and computational biology as applied to analyzing large biological datasets. He is currently a postdoctoral scholar at the Virginia Institute for Psychiatric and Behavioral Genetics (VIPBG) at Virginia Commonwealth University (VCU) in Richmond, VA investigating the genetic etiology of bipolar disorder. 

Panel Discussion Topics

• The panelists introduce their backgrounds in plant molecular genetics, psychiatric genetics, functional genomics, gene therapy, and publishing.
• A presidential symposium on science communication prompts discussion about making genetics more accessible to people outside the field.
• The panel highlights the value of clear, audience-friendly language—for example, using “variant” rather than “mutation” when speaking to the public.
• Panelists reflect on communicating genetics across different levels of expertise, including for conference attendees outside a session’s specific subfield.
• A session on research beyond GWAS covers biobank studies, multi-omics and single-cell data calibration, false positives, machine-learning approaches to prioritizing genetic findings for drug discovery, and challenges in translating genetic discoveries into clinical trials.
• AI is improving predictions of regulatory elements and variant effects, particularly in the non-coding genome. The panel sees promise in AI-assisted variant prioritization while emphasizing the need for human oversight.
• Long-read sequencing and longer DNA synthesis may enable larger-scale genome engineering, high-throughput screening, and the study of combinatorial effects.
• Publishing advice: write early and alongside experiments. Doing so can reveal missing controls, incomplete notes, or gaps in the research while they’re still easy to address.
• Writing is a way of thinking, not just a way of documenting completed work.
• For computational research, documenting tools, parameters, and steps as you work can provide a strong foundation for the methods section.
• Sharing drafts with collaborators and readers from different backgrounds can improve clarity and help catch overlooked issues. Don’t wait for a perfect first draft before asking for feedback.
• Panelists discuss longer publication timelines and the strain they can place on trainees, as well as the challenge of finding enough qualified peer reviewers.
• Early-career researchers may be able to contribute to peer review, particularly with support from more experienced researchers.
• The publishing perspective shared in the discussion allows AI for language editing, but not for generating scientific insights; the panel also raises concerns about the quality of AI-heavy review papers.
• Authors can prepare for peer review by anticipating likely questions, addressing relevant alternative methods and analyses, and explaining limitations in the manuscript.
• Starting early, outlining the paper, and acknowledging potential reviewer concerns can help strengthen submissions and make revisions more efficient.

 

ASHG 2026 Sessions & Events Mentioned

• Wiley's Advanced Portfolio × DNA Today Brunch Discussion — Thursday, October 22. Moderated by Kira Dineen, featuring Yuming Hu, Nadav Ahituv, and Brandon Le. The event explored emerging genetics research, translating discoveries into therapies, and scientific collaboration.
• Presidential Symposium: Communicating Science in an Uncertain World: Evidence, Storytelling, and Public Trust — Wednesday, October 21, 4:30–6:15 PM. Featuring Susan A. Slaugenhaupt, Alex Dainis, Natalie (Talia) Stroud, and Roxanne Khamsi.
• Nabsys CoLab: Electronic Genome Mapping in Hematologic Malignancies: Bridging Cytogenetics and Molecular Genomics — Thursday, October 22, 5:00–5:30 PM. Alka Chaubey, PhD, FACMG, Chief Medical and Genomics Office, Nabsys
• The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges — Wednesday, October 21, 11:00 AM–12:00 PM.
• Genetic Counselor Shared Interest Group Meetup on Wednesday, October 21, from 9:45–10:45 AM
• Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem — Wednesday, October 21, 8:15–9:45 AM.
• Presentation of ASHG Artificial Intelligence Initiative Report — Thursday, October 22, 9:45–10:45 AM.
• Machine Learning-Driven Approaches to Variant Classification and Prioritization — Thursday, October 22, 8:15–9:45 AM.
• EHR-Based Computational and AI Approaches in Clinical Genetics — Thursday, October 22, 1:30–2:30 PM.

Nabsys’ Resources 

• Nabsys to Showcase Electronic Genome Mapping for Hematologic Malignancies at ASHG 2026
• Nabsys Launches RepX™ for Repeat Expansion Analysis
• Nabsys’ Presence at ASHG 
• Electronic Genome Mapping Enables High-Resolution Cytogenomic Profiling of Hematologic Malignancies: A Proof-of-Principle Study

Nabsys’ Posters at ASHG 

• Reviewers Choice Poster #5008F: CRISPR/Cas9 Optimization by Electronic Genome Mapping presented by John Thompson, PhD, Principal Scientist, Nabsys on Friday, October 23 from 2:30-4:30 PM EDT
• Poster #8146T: Genome-Scale Mapping of Human LINE-1 ORF2p Endonuclease Activity presented by Michael Gallagher, PhD, Software Applications Scientist, Nabsys on Thursday, October 22 from 4:15-6:15 PM EDT
• Poster #8132W: CRISPR/Cas9 Customization of Electronic Genome Mapping Repeat Expansion Assays presented by Kasra Tabatabaei, PhD, Application Scientist, Nabsys on Wednesday, October 21 from 2:30-4:30 PM EDT
• Poster #2031T: CRISPR-Assisted Electronic Genome Mapping for Robertsonian Translocations and FSHD presented by Erika Headrick, MS, Software Product Manager, Nabsys on Thursday, October 22 from 4:15-6:15 PM EDT
• Poster #2025F: Assessment of Structural and Copy Number Variants in Constitutional Samples Using Electronic Genome Mapping presented by Adam Smith, PhD, FCCMG, Clinical Laboratory Director, LabCorp on Friday, October 23 from 2:30-4:30 PM EDT
• Poster #8133F: Detection of Leukemia-Associated Structural Variants Using Electronic Genome Mapping Technology presented by Annarueber Lozar, M.S., Scientist, Nabsys on Friday, October 23 from 2:30-4:30 PM EDT
• Poster #2040F: Evaluation of the clinical utility of Electronic Genome Mapping Analysis in the detection of disease causing structural variants in rare genetic diseases presented by Dr. Kumiko Yanagi, National Center for Child Health and Development, Friday, October 23 from 2:30-4:30 PM EDT 

Publishing Resources: 

• Wiley Advanced Portfolio 
• Wiley’s Journal Finder
• Genetics and Genomics: Advanced Science Collection 
• Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections
• Wiley's AI guidelines for Authors
• What Makes a Successful Submission Wiley Blog Post
• Eligibility for access to Research4Life 
• Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences
• Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering

 

Relevant DNA Today Podcast Episodes:

• #392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism
• #345 How To Talk About DNA Without Losing People: Strategies Part 1
• #350 How To Talk About DNA Without Losing People: Strategies Part 2
• #231 ChatGPT and AI In Genetics with Daniel Uribe
• #285 AI To Enhance Variant Curation with Daniel Uribe
• #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors
• #375 How Your Publication Can Fuel Genetic Innovation
• #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
• #314 ASHG 2024 Recap
• #412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer (AGBT-PH Coverage) 
• #416 How Baby KJ Became the First Patient Treated With Personalized CRISPR (AGBT-PH Coverage)

 

Next Conference:

Next stop on our conference road trip is Baltimore, MD for the National Society of Genetic Counselors (NSGC) annual conference. We can’t wait to see you there! If you see Kira, say hi and she will give you a DNA Today sticker! 

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

CRISPR has carried enormous promise since scientists first realized its potential to edit the human genome, but it has also raised some of the biggest ethical questions in modern genetics.

In this episode, Kira Dineen sits down with Dr. Kiran Musunuru to trace the evolution of human gene editing, beginning with the controversial 2018 announcement that scientist He Jiankui had used CRISPR to edit human embryos in China, resulting in the birth of the world’s first gene-edited babies. The experiment, which targeted the CCR5 gene in an attempt to reduce susceptibility to HIV, sparked international condemnation and intensified debate over germline genome editing, where genetic changes could potentially be passed on to future generations.

From there, the conversation shifts to a dramatically different application of CRISPR: treating serious genetic disease in an individual patient.

Dr. Musunuru shares the remarkable story of Baby KJ, who was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and became the first patient to receive a personalized CRISPR-based therapy designed specifically for his genetic variant. The team developed KJ’s customized base-editing treatment in approximately six months, moving from identification of his variant through preclinical testing, manufacturing, regulatory review, and ultimately treatment.

Dr. Musunuru explains how KJ’s therapy works, what researchers have learned from his response so far, and whether his case could establish a new pathway for treating patients with ultra-rare genetic conditions who may never fit into a traditional drug-development model.

This interview was recorded in person at AGBT Precision Health in Coronado, California, we caught up with Dr. Musunuru after a presentation. 

Episode Discussion Topics:

• The 2018 announcement of the world’s first CRISPR-edited babies in China
• Why He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlash
• The difference between editing embryos and germline cells versus editing somatic cells in a patient
• What the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technology
• How the field of CRISPR medicine has evolved since 2018
• How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular disease
• Using CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterol
• The development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery disease
• The possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatments
• How cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiency
• What CPS1 deficiency is and why it can become life-threatening shortly after birth
• How Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatment
• Why KJ’s specific genetic variant was a candidate for base editing
• How base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNA
• Developing a gene-editing therapy specifically for a single patient
• Delivering the gene editor to liver cells using lipid nanoparticles
• Why the liver is an especially promising target for in vivo gene-editing therapies
• The collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possible
• Navigating FDA review for a therapy that had never previously been given to a human
• Why KJ received multiple doses of the therapy
• Early signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medication
• Why researchers are careful not to describe KJ’s treatment as a cure
• The importance of long-term monitoring for both effectiveness and potential safety concerns
• Evaluating off-target editing and other potential risks of personalized gene-editing therapies
• Whether creating an individual therapy for a single patient can realistically become scalable
• Moving from an “N-of-1” treatment toward gene-editing platforms that could be adapted for multiple patients with different variants
• How regulatory frameworks may need to evolve for personalized genetic medicines
• Which other rare genetic diseases could potentially benefit from this approach
• What Baby KJ’s story could mean for the future of precision medicine and gene editing

About Dr. Kiran Musunuru

Kiran Musunuru, MD, PhD, MPH, ML, MRA, is the Barry J. Gertz Professor for Translational Research at the Perelman School of Medicine at the University of Pennsylvania. He is Director of the Genetic and Epigenetic Origins of Disease Program within the Penn Cardiovascular Institute, Scientific Director of the Penn Center for Inherited Cardiovascular Disease, and Co-Director of the Penn Medicine/Children’s Hospital of Philadelphia Orphan Disease Center.

Dr. Musunuru is a practicing cardiologist and physician-scientist whose research focuses on using genetics and gene-editing technologies to develop new treatments for cardiovascular, metabolic, and rare genetic diseases.

He has also written extensively about the ethical and scientific implications of human genome editing, including the CRISPR babies controversy in his book The CRISPR Generation. 

Along with Dr. Rebecca Ahrens-Nicklas and a large multidisciplinary team, Dr. Musunuru helped lead the development of the world’s first personalized CRISPR gene-editing therapy for Baby KJ. Their work was published in The New England Journal of Medicine in 2025.

Baby KJ and Personalized Gene Editing

KJ Muldoon was born with severe CPS1 deficiency, a rare urea cycle disorder caused by pathogenic variants in the CPS1 gene. Without adequate CPS1 enzyme activity, the body cannot efficiently process nitrogen generated from protein metabolism, which can lead to dangerously high ammonia levels.

Researchers designed a customized CRISPR base-editing therapy targeting KJ’s specific disease-causing variant. The editor was delivered to the liver using lipid nanoparticles.

KJ received multiple infusions of the personalized therapy. Researchers have reported that he has been able to consume more dietary protein, requires less nitrogen-scavenging medication, and has demonstrated improved metabolic stability. Researchers continue to monitor KJ closely to understand the therapy’s long-term safety, durability, and clinical benefit.

Resources

• Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
  • Musunuru K, et al. New England Journal of Medicine. Published May 2025.
  • The landmark publication describes the development and initial clinical results of KJ’s personalized base-editing therapy.
•  The CRISPR Generation: The Story of the World’s First Gene-Edited Babies
  • By Kiran Musunuru examines the science and ethical failures surrounding the creation of the first CRISPR-edited babies and what the case means for the future of human genome editing.
• “Chinese researcher claims first gene-edited babies” in the Associated Press
  • The original article broke the news that the Chinese scientist He Jiankui had used CRISPR to edit human embryos, resulting in the birth of the world’s first gene-edited babies. 

• “In Vivo Base Editing of PCSK9 with VERVE-102 for Hypercholesterolemia”

• • Recent paper co-authored by Dr. Musunuru in The New England Journal of Medicine regarding people carrying loss-of-function variants of proprotein convertase subtilisin–kexin type 9 (PCSK9) have reduced levels of low-density lipoprotein (LDL) cholesterol and fewer atherosclerotic cardiovascular disease events than persons without such variants. VERVE-102 is an investigational base-editing therapy designed to durably inactivate PCSK9 in the liver.
• Children’s Hospital of Philadelphia: The Future of Personalized Medicine is Here: KJ’s Story
  • Learn more about KJ, his family, and the multidisciplinary team that developed his personalized treatment.
• Penn Medicine: World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy
  • Overview of the science behind the treatment and the collaboration required to bring it into the clinic.
• Penn Medicine/CHOP Orphan Disease Center
  • Dr. Musunuru serves as Co-Director of the center, which works to advance research and therapeutic development for rare diseases.
• AGBT Precision Health 
  • We recorded this episode in person at AGBT Precision Health, which brings together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. 
  • The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. 

Relevant DNA Today Episodes

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 & #289 Part 2

Victoria Gray shares her experience living with sickle cell disease before becoming the first person treated with the CRISPR therapy that would later become Casgevy.

 

#343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure

Joe Jackson shares his family’s effort to develop a personalized CRISPR therapy for his son William, who has Duchenne muscular dystrophy.

 

#198 CRISPR Ethics with Sam Sternberg

Dr. Sam Sternberg explores the scientific, ethical, and regulatory questions surrounding CRISPR gene editing.

 

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

Drs. Eric Green and Sarah Tishkoff join our host Kira Dineen for our annual recap and reflection on the biggest genetics/genomics advancements this year! Kira’s top pick was this story of Baby KJ. 

 

#399: PKU and the History of Newborn Screening

In the first installment of our PKU series, we explore how the condition helped launch newborn screening and why early diagnosis can dramatically change a child’s future.

#413 PKU Beyond the Diet: Food, Mental Health, and Daily Life

In the second installment of our PKU series, Dr. Jennifer Brown and her daughter Lillian Isabella explore the realities of PKU, from food and family life to mental health and independence. 

#412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer

Dr. Diana Bianchi discusses unexpected maternal findings from prenatal cell-free DNA screening. This was also recorded in-person at AGBT Precision Health 2026. 

#141 Stan Crooke on Developing “n of 1” Treatments for Nano Rare Disease 

Biotech titan Dr. Stan Crooke, who developed 20+ drugs, shares about his new n-Lorem Foundation, which develops ASO treatment for conditions affecting less than 30 people in the world. 

#323 Supporting Ongoing Urea Cycle Disorder (UCD) Care

Two UCD experts, Holly Bernal and Laurie Bernstein, share how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs.

Connect with DNA Today: 

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

Please note this episode is only available on our website, DNAToday.com under Episode 415, and access is limited to those in the United States. 

In just a few years, achondroplasia treatment has expanded from no approved precision medicines to multiple approaches targeting the condition’s underlying biology.

In this episode, we continue our conversation with Dr. Ravi Savarirayan, a global leader in skeletal dysplasia care and a lead investigator across multiple achondroplasia clinical development programs. Dr. Savarirayan previously joined us on Episode 401, where we explored the first approved precision treatment for achondroplasia and international guidance for its use.

This time, we take a broader look at the rapidly evolving achondroplasia treatment landscape, including how different therapeutic approaches target FGFR3 signaling, how researchers interpret clinical trial outcomes, and what results from the Phase 3 PROPEL 3 study of investigational infigratinib could mean for children and families.

We also discuss why treatments cannot be reliably compared using results from separate clinical trials, the importance of studying outcomes beyond growth, and the questions that remain about long-term safety, functional benefits, treatment selection, and switching therapies.

Thank you to BridgeBio for sponsoring this episode.

Episode Discussion Topics

• How the achondroplasia treatment landscape has evolved in the last seven years
• How achondroplasia affects more than height
• How current and investigational therapies target FGFR3 signaling in different ways
• What annualized growth velocity, height Z-scores, and body proportionality reveal in clinical trials
• Key findings from the Phase 3 PROPEL 3 study of investigational infigratinib
• What researchers can and cannot yet predict about final adult height based on current data
• Why body proportionality may be an important clinical and functional outcome
• How researchers are evaluating potential effects on mobility, reach, independence, and daily activities
• The long-term safety questions that remain when treatment begins in childhood
• Why results from separate achondroplasia trials should not be compared directly
• How families and healthcare providers can weigh treatment benefits, risks, administration, and personal goals
• What is being studied in hypochondroplasia and other conditions involving overactive FGFR3 signaling

Our Guest: Dr. Ravi Savarirayan

Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA). 

 

Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries. His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow.

Resources

• BridgeBio Achondroplasia Program Learn more about achondroplasia, FGFR3 biology, and BridgeBio’s clinical development program evaluating infigratinib.
• BridgeBio Achondroplasia Clinical Trials Information about the PROPEL clinical trials for infigratinib. 
• “Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia” The article that Dr. Ravi mentioned in the episode that was published June 28, 2026 in The New England Journal of Medicine. 
• Little People of America A nonprofit organization offering community, education, advocacy, events, and resources for people with dwarfism and their families.

Relevant DNA Today Podcast Episodes Episode 401: The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan

Dr. Savarirayan first appearance on the show where he explains how the first approved precision treatment for achondroplasia works and discusses international consensus recommendations for counseling families, initiating treatment, monitoring outcomes, and considering when treatment may be discontinued.

Episode 386: Achondroplasia Beyond Height: Managing Lifelong Medical Needs

Dr. Ricki Carroll discusses the medical complications associated with achondroplasia, the importance of coordinated multidisciplinary care, and why lifelong management must address much more than linear growth.

Episode 359: Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains

Dr. Janet Legare reviews the genetics, diagnosis, clinical features, medical management, and family counseling considerations associated with achondroplasia.

Episode 301: Dwarfism with Colleen Gioffreda

Colleen Gioffreda shares her experience living with achondroplasia, raising children with achondroplasia, navigating healthcare, building community, and challenging misconceptions about dwarfism.

Episode 192: Osteogenesis Imperfecta with The Middle’s Atticus Shaffer

Actor Atticus Shaffer discusses living with osteogenesis imperfecta, growing up in the entertainment industry, misconceptions about genetic conditions and short stature, and what he wants healthcare professionals to understand.

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

When patients relocate or relatives living abroad need cascade testing, finding a qualified genetics professional in another country can be surprisingly difficult. The new Global Genetics Directory aims to change that through a free, verified, peer-to-peer resource connecting genetics and genomics professionals worldwide.

In this episode of DNA Today, recorded in person at our studio, host Kira Dineen is joined by genetic counselor Monisha Sebastin, Founder and Principal Investigator of the Global Genetics Directory. Monisha explains how her international background and leadership within the genetics community revealed the need for a centralized global resource.

We explore how the directory was developed with support from the prestigious Audrey Heimler Special Projects Award, how professionals are verified across different credentialing systems, and why the team chose a closed, consent-based model rather than a publicly searchable directory. Monisha also shares how the directory could strengthen cross-border patient care, cascade testing, professional collaboration, and access to genetics services around the world.

Episode Discussion Topics

• Why finding genetics professionals in other countries can be challenging
• How Monisha’s experiences in India and the United States shaped her perspective on global access
• When international connections are especially important for patient care and cascade testing
• What genetics professionals around the world said they needed from a global directory
• How NSGC’s Audrey Heimler Special Projects Award supported the project
• How registration, credential verification, and directory searches work
• Why eligibility is limited to credentialed genetics and genomics professionals
• How the directory accommodates differences in professional titles, credentials, and scopes of practice
• Why membership is free
• The benefits of a closed, peer-to-peer, and consent-based model
• How patients seeking care abroad can work with their current providers
• The team’s vision for expanding the directory and strengthening international collaboration

About Monisha Sebastin

Monisha Sebastin, MS, LCGC, is the Founder and Principal Investigator of the Global Genetics Directory. She is also a senior pediatric genetic counselor in New York City, where she specializes in cardiogenetics and research.

Monisha grew up in India and earned her undergraduate degree in genetic engineering before completing her genetic counseling training at Sarah Lawrence College. Her international background, clinical experience, and leadership within the global genetic counseling community helped inspire the development of the Global Genetics Directory.

The directory was developed with support from the Audrey Heimler Special Projects Award for Monisha’s project, “Evaluating International Genomics Providers’ Needs and Perspectives on a Global Genomics Services Directory.”

Resources & Links

• Global Genetics Directory
  • To email directly, contact@globalgeneticsdirectory.com 
• National Society of Genetic Counselors (NSGC)
• NSGC’s Audrey Heimler Special Projects Award
• Find A Genetic Counselor Directory 

Relevant DNA Today Podcast Episodes

• #109 Shenela Lakhani on Genetic Counseling in Qatar — Hear from Qatar’s first certified genetic counselor about establishing the profession in a new country and adapting counseling across cultures.
• #110 Gattaca, 22 Years Later with Catherine Mayo and Ale Cantu — Catherine Mayo’s first DNA Today appearance examines the film’s enduring relevance to genetic counseling, reproductive decision-making, and genetic discrimination.
• #114 Matt Burgess on Australasian Genetic Counseling — Explore genetic counseling education, certification, private practice, and healthcare delivery in Australia and across the Australasian region.
• #212 NSGC Recap 2022 — Meet Monisha and learn about the clinical care and compassion that earned her the Heart of Genetic Counseling Award, along with her work supporting international genetic counselors.
• #221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels — Learn how genetic counseling is practiced and taught in South Africa, including barriers to expanding services and differences between its public and private healthcare systems.
• #259 NSGC 2023 Recap and Reflections with Catherine Mayo — Catherine Mayo returns to the show to discuss major themes and takeaways from the genetic counseling profession’s annual conference.
• #269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci — Meet the Global Genetics Directory’s web developer and site architect and hear how computer vision can support the diagnosis of genetic conditions.
• #286 Qatar Genome Program with Dr. Said Ismail — Explore the Middle East’s largest population-based genome initiative and its work to improve the representation of Qatari and Arab populations in genomic research.
• #311 Mock Cancer Genetic Counseling Session with Catherine Mayo — Hear Catherine Mayo demonstrate cancer risk assessment, genetic testing education, and patient-centered counseling in a simulated session.
• #351 Mock Cardiac Genetic Counseling Session with Monisha Sebastin — Hear Monisha demonstrate her cardiogenetics expertise and counseling approach during a simulated session involving a family history of sudden death.

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how your brain and body feel.

This is DNA Today, a podcast from Gene Pool Media, where we explore the breakthroughs, challenges, and human impact of genetics and genomics. I’m your host Kira Dineen, a genetic counselor and award-winning science podcaster and speaker.

This is a continuation of our PKU series, sponsored by PTC Therapeutics. In the first episode (Episode 399), we explored how PKU helped launch newborn screening and why early diagnosis can completely change a child’s future.

In this second episode, we’re looking at what comes next: what it actually means to manage PKU through food, and how this affects school, friendships, celebrations, mental health, independence, and a person’s relationship with food.

Joining us are a mother and daughter who have experienced that journey together:

Dr. Jennifer Brown is a geneticist, science communicator, and author of When the Baby Is Not OK: Hopes & Genes, a wonderful memoir about genetics, motherhood, and raising children with PKU.

Lillian Isabella is a playwright, advocate, and graduate student in Columbia University's Narrative Medicine program who served six years on the National PKU Alliance board and lives with PKU. She is Dr. Brown's daughter. 

Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. 

 

Episode Discussion Topics

• What a “low-protein diet” actually requires for someone living with PKU
• How protein and phenylalanine tolerance are determined and monitored over time
• The work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foods
• Dr. Brown’s experience learning to treat feeding her newborn as a form of medical care
• Raising two daughters with PKU and balancing dietary management with everyday family life
• Lillian’s relationship with PKU formula and medical shakes throughout different stages of life
• How elevated phenylalanine levels can affect focus, energy, mood, and daily functioning
• Navigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situations
• When Lillian first became aware that she ate differently from her peers
• How constant food monitoring can influence a person’s emotional relationship with eating
• PKU-related frustration, burnout, anxiety, guilt, and resentment
• How language used by clinicians can shape a child’s identity and relationship with their condition
• Transitioning from parent-managed PKU care to greater independence in adolescence and adulthood
• Returning to metabolic care after time away
• Lillian’s experience turning her lived experience with PKU into advocacy
• Advice for parents who have just learned their baby has PKU
• How guidance and support may change through early childhood, adolescence, and adulthood
• Dr. Brown and Lillian’s hopes for the future of PKU care and what could make everyday management easier

Resources & Links

• When the Baby Is Not OK: Hopes & Genes by Dr. Jennifer Brown
• PKU / Phenylketonuria
• Phenylalanine hydroxylase deficiency ACT Sheet
• The Newborn Screening Information Center (NBSIC)
• Recommended Uniform Screening Panel, or RUSP
• RUSP overview for families
• ACMG Newborn Screening ACT Sheets and Algorithms
• Baby’s First Test: Newborn Screening Information
• National PKU Alliance

Relevant DNA Today Podcast Episode

Episode 399: PKU and the History of Newborn Screening – In the first installment of this series, we explore how PKU helped launch newborn screening and why early diagnosis can dramatically change a child’s future.

 

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

Prenatal cell-free DNA screening is designed to assess a pregnancy for chromosome conditions; but in rare cases, it can reveal something entirely unexpected about the pregnant patient’s own health.

In this episode, Kira Dineen is joined in-person by Dr. Diana Bianchi to explore how unusual or non-reportable cfDNA screening results can sometimes be a signal of an undiagnosed maternal cancer.

Dr. Bianchi shares findings from the NIH’s ongoing IDENTIFY study, which is investigating why these unexpected cfDNA patterns occur, how clinicians can distinguish potential malignancy from other explanations, and what should happen next when a prenatal screening result raises concern about maternal cancer.

We recorded this episode in person at AGBT Precision Health, one of our favorite conferences of the year. The conference wrapped this past Wednesday and brought together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations.

The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. We already put it on our calendars! 

 

In This Episode, We Discuss:

• What “non-reportable” or “uninterpretable” cfDNA results actually mean
• How unusual cfDNA results differ from typical test failures
• Determining whether an unexpected cfDNA signal originates from the fetus, placenta, or pregnant patient
• Maternal causes of discordant cfDNA results, including fibroids, clonal hematopoiesis, a demised twin, and malignancy
• Why tumors can release DNA into the bloodstream that is detected during prenatal screening
• Why Dr. Bianchi and her colleagues launched the prospective IDENTIFY study in 2019
• What participants undergo when they travel to the NIH Clinical Center for evaluation
• Results from the first 107 IDENTIFY participants, including the 52 participants diagnosed with cancer
• Why lymphoma is frequently identified through these unusual cfDNA patterns
• Chromosomal patterns that are particularly suspicious for malignancy
• Why gains and losses involving three or more chromosomes can be an important warning sign
• Why symptoms, physical examinations, and routine bloodwork may not reliably identify patients with occult cancer
• The role of rapid whole-body MRI in evaluating patients for malignancy
• Approaches clinicians can consider when whole-body MRI is not readily available
• Diagnosing and treating cancer during pregnancy
• What researchers have learned from participants whose evaluation does not identify cancer
• How the IDENTIFY study has expanded since its original published cohort
• How laboratories should report cfDNA patterns that may suggest maternal malignancy
• The need for professional society guidelines for clinicians receiving these unusual results
• What genetic counselors, OB/GYNs, and maternal-fetal medicine specialists should do when they receive a concerning non-reportable NIPS result

About Dr. Diana Bianchi

Diana W. Bianchi, MD, is a physician-scientist and a pioneer in noninvasive prenatal genetic testing and fetal cell microchimerism research. She previously served as Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health and was a senior investigator in the Center for Precision Health Research at the National Human Genome Research Institute.

Her research has helped define how prenatal cell-free DNA sequencing can unexpectedly identify genomic patterns associated with maternal malignancy. In 2019, Dr. Bianchi and colleagues launched the IDENTIFY Study — Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis — to investigate the biological causes of unusual or non-reportable prenatal cfDNA results and develop evidence-based approaches for identifying patients who may need evaluation for cancer.

 

IDENTIFY Study

The IDENTIFY study is an ongoing prospective study at the NIH Clinical Center evaluating pregnant and postpartum individuals who received unusual or non-reportable prenatal cfDNA sequencing results (also known as non-invasive prenatal screening or testing, NIPS or NIPT). 

The first major results from IDENTIFY were published in The New England Journal of Medicine in December 2024. Among the first 107 participants evaluated, 52 (48.6%) were diagnosed with cancer.

Researchers also found:

• Rapid whole-body MRI had 98% sensitivity and 88.5% specificity for detecting occult cancer.
• Physical examination and routine laboratory testing had limited ability to distinguish participants with cancer.
• Among participants whose research cfDNA sequencing showed both copy-number gains and losses involving three or more chromosomes, 47 of 49 (95.9%) had cancer.
• Other unusual cfDNA patterns can have nonmalignant explanations, reinforcing that a non-reportable result does not automatically mean cancer.

Resources

• • NIH IDENTIFY Study
    • Learn more about the ongoing Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis study through the National Human Genome Research Institute.
  • Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer
    • Turriff AE, Annunziata CM, Malayeri AA, et al. New England Journal of Medicine. Published December 2024.

• Thalidomide History & Impact via UK Science Museum 

• • • Thalidomide changed our relationship with new medicines forever. It took five years for the connection between thalidomide taken by pregnant people and the impact on their children to be made including limb differences. Not only did thalidomide change people’s lives, but it resulted in tighter drug testing and reporting of side-effects and, as our guest Dr. Bianchi points out, more fear surrounding malpractice when treating people who are pregnant. 

• The Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health (NICHD)

• Task Force on Research Specific to Pregnant Women and Lactating Women (PRGLAC) Implementation Working Group of Council

• Connecticut Genetic Counselor’s Association (CTGCA)

• Our host Kira Dineen attended a session at one of the annual conferences where she learned more about the IDENTIFY Study. The 2026 conference will take place the evening of Thursday October 15th and all day Friday October 16th, join Kira by registering here. Disclaimer that Kira is on the Board of Directors and designed the new website, so this is a bias, but informed recommendation.  

• Colorectal Cancer Rates Are Skyrocketing in Young Adults — Is Your Lifestyle Putting You at Risk? Via Cancer Research Institute 

• • • Once considered a disease of older age, colorectal cancer is rising at an alarming rate in younger adults. Today, 1 in 5 diagnoses occurs in someone under the age of 55 — and it has become a leading cause of cancer-related death in young people.

• Coexistence of pregnancy and malignancy. 

• Pavlidis NA. Oncologist. 2002;7(4):279-87. Erratum in: Oncologist 2002;7(6):585. PMID: 12185292.

• • Chemotherapy safe during pregnancy in second and third trimesters.
    • Starr P. Value-Based Cancer Care. 2015 Nov;6(10).

• Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies. 

• • • Lenaerts L, Brison N, Maggen C, Vancoillie L, Che H, Vandenberghe P, Dierickx D, Michaux L, Dewaele B, Neven P, Floris G, Tousseyn T, Lannoo L, Jatsenko T, Bempt IV, Van Calsteren K, Vandecaveye V, Dehaspe L, Devriendt K, Legius E, Bogaert KVD, Vermeesch JR, Amant F. EClinicalMedicine. 2021 May 13;35:100856. doi: 10.1016/j.eclinm.2021.100856. PMID: 34036251; PMCID: PMC8138727.

• American College of Medical Genetics and Genomics (ACMG) 

• The International Society for Prenatal Diagnosis (ISPD)  

• National Comprehensive Cancer Network (NCCN)

• AGBT Precision Health 
  • We recorded this episode in person at AGBT Precision Health, which brings together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. 
  • The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location.

 

Relevant DNA Today Episodes

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections Drs. Christine Eng, Eric Green, and Marina Sirota share highlights from last year’s AGBT Precision Health meeting, including advances in genomic medicine, rare disease diagnostics, and precision health.

#348 NIPT Beyond the Basics: Screening for Single-Gene Conditions Dr. Fred Ushakov explores how noninvasive prenatal testing is evolving beyond traditional chromosome screening and the role of single-gene NIPT.

#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Explore how cfDNA technology is being used to screen pregnancies for certain single-gene conditions.

#180 Reproductive DNA Testing with Mitera This episode explores reproductive genetic testing, including carrier screening and cell-free DNA screening for common chromosome conditions during pregnancy.

#317 Prenatal Mock Genetic Counseling Session Follow a mock prenatal genetic counseling appointment covering NIPS, diagnostic testing, ultrasound findings, and prenatal screening options.

#368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency A mock genetic counseling session exploring an increased nuchal translucency finding, prenatal genetic testing options, and counseling after an abnormal ultrasound result.

 

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome?

This is the eighth installment in our Mock Genetic Counseling Session Series! In this episode, cancer genetic counselor Connor Linehan and genetic counseling student Edith Atwerebour perform a mock cancer genetic counseling session. Edith plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose tumor showed loss of the MSH2 and MSH6 proteins.

Although this tumor result raises suspicion for Lynch syndrome, it does not confirm that Patricia has an inherited cancer predisposition. Through this simulated session, Connor explains the difference between tumor and germline testing, reviews the pattern of cancer in Patricia’s family, and discusses how genetic testing could inform her future medical care and clarify cancer risks for her relatives.

Patricia is particularly concerned about her kids. The session demonstrates how genetic counselors address the emotional impact of a possible hereditary cancer condition while explaining why testing and cancer screening are generally not recommended for children when the associated risks begin in adulthood.

Previous installments of this series have explored prenatal, pediatric, cardiovascular, cancer, and teratogen genetic counseling. We hope these sessions help prospective and current genetic counseling students, and the general public, better understand what happens during a genetic counseling appointment.

The Actors

Connor Linehan, MS, LCGC is a board-certified genetic counselor in Connecticut specializing in cancer. He helps patients and families understand inherited cancer risks, genetic testing options, and how test results may affect medical management and relatives. He is also a Clinical Instructor at a genetic counseling graduate program. Connor is the President of The Connecticut Genetic Counselor Association. (Fun fact, our host Kira Dineen designed this new website!) 

Edith Atwerebour, MPH is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose abnormal tumor testing raises concern for Lynch syndrome. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today.

Edith also appeared in the previous installment of this series, #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin, in which she played Denise, a pregnant patient seeking information about several medication exposures.

Mock Session Overview

• Establishing the purpose and structure of a cancer genetic counseling appointment
• Reviewing Patricia’s colon cancer diagnosis, treatment, and current health
• Addressing Patricia’s concerns about her children early in the session
• Constructing and evaluating a three-generation cancer family history
• Identifying features that raise concern for hereditary cancer, including colon cancer before age 50 and multiple Lynch-associated cancers
• Explaining how genes normally help protect the body from developing cancer
• Sporadic, familial, and hereditary explanations for cancer
• The function of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2
• How immunohistochemistry evaluates mismatch repair protein expression in a tumor
• Why loss of MSH2 and MSH6 raises concern for mutations (pathogenic variants) in cancer genes
• The difference between tumor testing and germline genetic testing
• Why abnormal tumor testing does not independently establish a Lynch syndrome diagnosis
• How genetic changes confined to a tumor differ from inherited germline variants
• Why Patricia is the most informative person in her family to test first
• The option of using a multigene hereditary cancer panel
• Possible genetic testing results: positive, negative, and a variant of uncertain significance
• What each potential result could mean for Patricia and her relatives
• Why inheriting a pathogenic variant increases cancer risk but does not guarantee cancer
• Why Patricia’s children would generally wait until adulthood for genetic testing
• How a positive result could affect Patricia’s colon cancer surveillance
• Other Lynch-associated cancer risks, including endometrial, ovarian, gastric, pancreatic, urinary tract, and additional cancers
• How screening and risk-reducing options vary by the gene involved
• Cascade testing for Patricia’s mother, children, and other relatives if a familial variant is identified
• Genetic testing through a blood or saliva sample
• The expected turnaround time and how results would be reviewed
• Patricia’s decision about whether to proceed with germline genetic testing

Lynch Syndrome Resources

• About Lynch Syndrome—Centers for Disease Control and Prevention
• Genetic Testing for Lynch Syndrome—Centers for Disease Control and Prevention
• Managing Cancer Risks Associated With Lynch Syndrome—Centers for Disease Control and Prevention
• Lynch Syndrome—GeneReviews
• Lynch Syndrome—MedlinePlus Genetics
• Lynch Syndrome Information and Support—FORCE
• American Cancer Society: Genetic Testing, Screening, and Prevention for Colorectal Cancer
• Find a Genetic Counselor—National Society of Genetic Counselors
• Global Genetics Directory

Relevant DNA Today Podcast Episodes

• #57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst shares her experience with Lynch syndrome, genetic testing, risk-reducing surgery, and hereditary cancer advocacy.
• #43 Lynch Syndrome — Explore the genes associated with Lynch syndrome, related cancer risks, inheritance, genetic testing, and risk-reduction options.
• #25 Interview with Hereditary Cancer Experts — Georgia Hurst, Amy Byer Shainman, and Ellen Matloff discuss Lynch syndrome, hereditary breast and ovarian cancer, and other hereditary cancer syndromes, patient advocacy, and the importance of genetic counseling.
• #291 AFAP with Advocate Dan “Dry Dock” Shockley — Dan Shockley shares his experience with attenuated familial adenomatous polyposis (aFAP), colonoscopy screening, genetic testing, and continuing Dr. Henry Lynch’s legacy.
• #311 Mock Cancer Genetic Counseling Session — The first installment in this series demonstrates cancer genetic counseling for an unaffected patient with a family history of breast, ovarian, pancreatic, and prostate cancers.

Previous Installments of Our Mock Genetic Counseling Session Series

1. Episode #311: Cancer Session for Breast and Prostate Cancer Family History
2. Episode #317: Prenatal Session for Advanced Maternal Age
3. Episode #331: Pediatric Session for Autism
4. Episode #351: Cardio Session for Sudden Death of a Family Member
5. Episode #368: Prenatal Session for Increased Nuchal Translucency
6. Episode #373: Pediatric Session for an Abnormal Cystic Fibrosis Newborn Screening Result
7. Episode #406: Prenatal Session for Medications/Teratogens during Pregnancy (Ozempic, Zoloft, Xanax, and Metformin) 

Disclaimer

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. Cancer risks, screening recommendations, and risk-reducing options vary based on the individual, gene, personal medical history, and family history.

If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor or another qualified healthcare provider who can provide individualized medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. If you are a genetic professional yourself and looking for a a colleague outside the US, we recommend GlobalGeneticsDirectory.org 

Connect with DNA Today

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean.

Gypsy Rose Blanchard’s medical history has been scrutinized for years. Throughout her childhood, her mother, Dee Dee Blanchard, presented her as having numerous serious medical conditions, resulting in medications, procedures, mobility aids, and countless medical appointments. In 2015, Dee Dee was murdered by Gypsy’s then-boyfriend in a crime Gypsy helped plan.

The case has since inspired documentaries, television series, podcasts, and an enormous amount of online speculation. But one part of Gypsy’s medical history has received relatively little attention: a chromosomal microdeletion identified through genetic testing.

In this special episode drop, we are sharing the fifth installment of “The Gypsy Rose Obsession,” an investigative series from the PRETEND podcast hosted by Javier Leiva. The first four episodes explore the online community that continues to investigate, debate, and develop competing theories about nearly every aspect of Gypsy’s life. We recommend listening to those episodes first for the full context behind the people, records, and claims discussed in this installment.

Episode five turns its attention to Gypsy’s reported 1q21.1 microdeletion. DNA Today host and certified genetic counselor Kira Dineen joins Javier as a genetics expert to examine the available records and explain the complexities of interpreting this finding.

Kira breaks down chromosomes using a genomic-library analogy, explains how a chromosomal “address” such as 1q21.1 is read, and puts the reported deletion size into perspective. She also compares a traditional karyotype with a chromosomal microarray and explains how a deletion can be too small to detect through one form of testing but identifiable through another.

What can the microdeletion tell us about Gypsy’s health? Why might her earlier clinical notes and a later laboratory report describe the finding differently? Could the deletion explain claims involving paralysis, leukemia, or the need for a feeding tube? Most importantly, how do we distinguish a possible genetic association from evidence that a particular finding caused someone’s medical, psychiatric, or behavioral features?

This episode discusses medical child abuse, violence, and murder. Please take care while listening.

Episode Discussion Topics

• What genetic counselors do and how they help patients understand genetic testing
• Chromosomes, genes, and microdeletions explained through a genomic-library analogy
• How to interpret the chromosomal address “1q21.1”
• What it means to have a piece of chromosome 1 missing
• Putting the size of the deletion into perspective
• Why the size of a genetic change does not always predict its medical impact
• The wide spectrum associated with 1q21.1 microdeletions, ranging from no apparent features to developmental and congenital differences
• How two people with the same or similar deletion can be affected very differently
• Why identifying the deletion does not mean someone will develop every associated condition
• Possible developmental, neurological, physical, and behavioral features reported with 1q21.1 microdeletions
• The difference between a genetic risk factor and a diagnosis or prediction
• Whether paralysis, leukemia, or feeding-tube use are associated with this deletion
• Why a genetic finding should not automatically be used to explain every aspect of someone’s medical or behavioral history
• The limitations of interpreting genetic information without a complete medical evaluation and family history

The information presented in this episode is intended for education and discussion and should not be considered individualized medical advice. Genetic test results should be interpreted by a qualified healthcare professional in the context of the individual’s complete medical and family history.

Resources & Links

• Listen to PRETEND on Apple Podcasts
• Listen to PRETEND on Spotify
• Learn more at the PRETEND podcast website
• 1q21.1 Microdeletion—MedlinePlus Genetics
• 1q21.1 Recurrent Deletion—GeneReviews
• 1q21.1 Microdeletions—Unique, Understanding Rare Chromosome and Gene Disorders

Relevant DNA Today Podcast Episodes True Crime and Forensic Genetics

• #402 How Genetic Genealogy Caught the Golden State Killer — Retired cold-case investigator Paul Holes explains how investigative genetic genealogy identified Joseph DeAngelo and discusses DNA evidence in the Golden State Killer, Zodiac Killer, and other major cases.
• #326 How DNA Solves Crimes: The Forensic Science Behind True Crime — DNA-analysis pioneer Dr. Henry Erlich explores PCR, forensic DNA databases, exonerations, the O.J. Simpson case, and the scientific and ethical complexities of DNA evidence.
• #131 Libby Copeland on Law Enforcement Use of Genetic Databases — Journalist and author Libby Copeland examines how law enforcement uses consumer genetic databases, including GEDmatch, familial searching, and the privacy questions raised by the Golden State Killer investigation.

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades?

This week, we are sharing an episode of DNA Clarity and Support, the newest podcast to join the Gene Pool Media network. Host and genetic counselor Brianne Kirkpatrick Williams speaks with New York Times bestselling author and journalist Gabrielle Glaser about her book, American Baby: A Mother, a Child, and the Shadow History of Adoption.

American Baby follows Margaret Erle Katz, who became pregnant as a teenager in 1961, and the son she was pressured to relinquish for adoption. That child, later named David Rosenberg, grew up without access to his biological family or family medical history. Decades later, while experiencing serious health problems, David used direct-to-consumer DNA testing to identify his birth family and discovered that the story he had believed about his adoption was not true.

Through David and Margaret’s experiences, Gabrielle exposes the coercion, secrecy, and stigma that shaped the postwar adoption industry, and explores why access to original birth records, genetic relatives, and family health history remains so important.

On This Episode, We Discuss:

• How Gabrielle met David while reporting on his kidney transplant
• How DNA testing connected David with his biological family
• What David discovered about his birth parents’ efforts to keep him
• How sealed adoption records restrict access to identity and family medical history
• Stigma, coercion, and secrecy in postwar American adoption
• Unethical research conducted on infants awaiting adoption
• The emotional complexity of unexpected biological connections and family reunions
• Privacy concerns surrounding commercial DNA databases
• Support resources for adoptees and others navigating DNA discoveries
• Margaret’s journey from decades of secrecy to adoptee-rights advocacy

About Gabrielle Glaser

Gabrielle Glaser is a New York Times bestselling author and journalist whose work on mental health, medicine, addiction, and culture has appeared in The New York Times Magazine, The New York Times, and many other publications.

Her fourth book, American Baby: A Mother, a Child, and the Shadow History of Adoption, examines the history of adoption in post–World War II America through the story of one family separated by the country’s secretive and coercive adoption system.

Learn more about Gabrielle and her work on her website.

About Brianne Kirkpatrick Williams

Brianne Kirkpatrick Williams is a licensed and certified genetic counselor, genealogist, author, and the founder of Watershed DNA. She provides support and guidance for people navigating DNA testing, family searches, adoption, donor conception, misattributed parentage, and unexpected biological relationships. Brianne is also the co-author, with Shannon Combs-Bennett, of The DNA Guide for Adoptees. 

About DNA Clarity and Support

DNA Clarity and Support explores the personal and familial impacts of DNA testing. Brianne speaks with authors, advocates, and leaders about family searches, unexpected discoveries, identity, medical history, and the resources available to people navigating the rapidly changing world of consumer DNA testing.

DNA Clarity and Support is produced by Watershed DNA and is part of the Gene Pool Media podcast network. Subscribe wherever you listen to podcasts.

Resources

• Gabrielle Glaser
• American Baby by Gabrielle Glaser 
• The DNA Guide for Adoptees by Brianne Kirkpatrick Williams and Shannon Combs-Bennett
• Watershed DNA
• Adoptee Rights Law Center
• Liberty Lost Podcast
• DNA Clarity and Support Podcast
• Current map of adoptee access to original birth certificates

Editor’s note: This conversation was originally recorded in 2022. Laws governing adoptee access to original birth certificates have continued to change since then. 

As of July 2026, according to the Adoptee Rights Law Center, adult adopted people in seventeen states currently have an unrestricted right to obtain copies of their own pre-adoption original birth records without discriminatory restrictions. These maps categorize US states into three primary groups: Unrestricted, Compromised, and Restricted, with definitions and numbers below. A list of states and restrictions is also available, as well as a changelog to the map over time.

Relevant DNA Today Episodes

• #103 Brianne Kirkpatrick on Adoptee Genetic Testing
• #139 Dani Shapiro on Her Donor-Conceived Discovery
• #242 Misattributed Paternity with Richard Wenzel
• #300 Netflix’s The Man With 1,000 Kids: Fertility Fraud Expert Eve Wiley and Advocate Laura
• #131 Libby Copeland on Law Enforcement Use of Genetic Databases

Connect

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later in life. With symptoms spanning multiple body systems and varying across the lifespan, how can clinicians recognize when these seemingly disconnected findings may point to HPP?

In the first episode of our three-part series on hypophosphatasia, we are joined by genetic counselor Amy Patterson to explore the clinical spectrum and diagnosis of HPP. Amy explains what happens biologically in HPP, why traditional age-based classifications do not always capture its variability, and how the condition may present from the prenatal period through adulthood.

We also discuss the importance of persistently low alkaline phosphatase (ALP), including why results must be interpreted using age- and sex-appropriate reference ranges. Amy reviews the additional laboratory findings, medical and dental histories, imaging, physical examination, and molecular testing that may contribute to a diagnosis. She also highlights common misdiagnoses and the clinical clues that should prompt healthcare providers to consider HPP.

Episode Discussion Topics

• What hypophosphatasia is and how impaired mineralization affects the body
• The perinatal, infantile, childhood, adult, and odonto forms of HPP
• Prenatal and infantile presentations of severe HPP
• Clinical and dental signs in children
• Fractures, chronic pain, fatigue, weakness, and dental concerns in adults
• How manifestations may change throughout a person’s lifetime
• Variability among relatives with the same familial ALPL variants
• Common diagnostic delays and misdiagnoses
• Distinguishing HPP from other causes of rickets and skeletal abnormalities
• Differentiating HPP from osteoporosis, osteopenia, osteoarthritis, and fibromyalgia
• The importance of persistently low ALP and appropriate reference ranges
• Alternative explanations for a low ALP result
• The HPP International Working Group
• The roles of laboratory testing, radiographs, dental records, and medical history
• When molecular testing of the ALPL gene may be appropriate
• Whether HPP can be diagnosed without an identified pathogenic or likely pathogenic ALPL variant

About the Guest

Amy Patterson, MS, CGC, is a licensed, board-certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She works with pediatric and adult patients in the general genetics clinic and the Greenberg Center for Skeletal Dysplasias, including individuals and families affected by hypophosphatasia.

About the Series

This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management.

This series is sponsored by Alexion. The views expressed by the host and guests are their own.

Resources  

• Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP.
• Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056.
• Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438.
• Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10.
• Brandi ML, Khan AA, Rush ET, et al. The challenge of hypophosphatasia diagnosis in adults: Results from the HPP International Working Group Literature Surveillance. Osteoporosis International. 2024;35(3):439–449.
• Soft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP.
• Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals.

Relevant DNA Today Episodes

• #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer: Actor Atticus Shaffer discusses living with osteogenesis imperfecta, his diagnostic and treatment experiences, and what he wants healthcare providers to understand about the condition.
• #301 Dwarfism with Colleen Gioffreda: Colleen Gioffreda shares her personal and professional perspectives on achondroplasia, skeletal dysplasias, parenting, adoption, accessibility, and advocacy.
• #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions: Dr. Fred Ushakov explains how single-gene NIPT and prenatal imaging may identify conditions including achondroplasia, osteogenesis imperfecta, and other skeletal dysplasias.
• #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains: In the first episode of our BioMarin-sponsored achondroplasia series, Dr. Janet Legare explores the genetics, clinical presentation, diagnosis, and multidisciplinary care of achondroplasia.
• #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs: In the second episode of the BioMarin-sponsored series, Dr. Ricki Carroll discusses lifelong monitoring, medical complications, care coordination, and quality of life.
• #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan: The final episode of the BioMarin-sponsored series examines vosoritide, international treatment guidelines, and the evolution of precision medicine for achondroplasia.
• #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story: Mayte Garcia reflects on her and Prince’s experience with their son Amiir’s severe skeletal and craniofacial condition, Pfeiffer syndrome type 2.
• #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida: Dr. Pradeep Bhide and Florida State Representative Adam Anderson explore how the Sunshine Genetics Act could reshape newborn sequencing, rare disease diagnosis, and pediatric genomic medicine.

Connect with DNA Today

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

What happens when the symptoms of a genetic condition look like the lasting effects of a professional football career?

Former NFL defensive end and Kansas City Chiefs star Art Still spent decades attributing carpal tunnel syndrome, trigger finger, back problems, joint and tendon injuries, neuropathy, and other health concerns to football, aging, and ordinary wear and tear. Even when he developed atrial fibrillation, Art’s lifelong discipline and athlete mentality made him believe he could manage his health on his own.

Art and his wife, Liz Still, join host Kira Dineen to share how those seemingly disconnected symptoms were eventually traced to hereditary transthyretin amyloidosis, also known as hereditary ATTR or hATTR amyloidosis.

During evaluations through the NFL Player Care Foundation wellness program, Art’s healthcare providers looked beyond his individual symptoms and asked about his family health history. That conversation revealed a striking pattern: relatives with serious cardiac, neurologic, and mobility-related conditions, including Art’s older brother, who received a heart transplant, and his nephew, who lived with sickle cell disease and had previously tested positive for the same TTR variant.

Genetic testing confirmed that Art carries the V122I variant, also called p.Val142Ile or V142I, in the TTR gene. This variant is found in approximately 3–4% of Black Americans, or about 1 in 25, although carrying it does not necessarily mean someone will develop amyloidosis.

For Art and Liz, the diagnosis provided answers, but it also raised questions for their 11 children, 28th grandchild on the way, and extended family. They discuss navigating family conversations about inherited health risks, the value of genetic testing, Art’s evolving trust in healthcare, and why following a treatment plan matters.

Through their nonprofit, Still 4 Life, Art and Liz now offer free community presentations focused on awareness, earlier detection, family health history, and self-advocacy. Their goal is to make complicated medical information easier to understand and reach people who may otherwise dismiss their symptoms or hesitate to seek care.

Episode Discussion Topics

• How Art’s “no pain, no gain” athlete mentality shaped his response to symptoms
• Why professional athletes may normalize pain and avoid disclosing injuries
• The symptoms Art initially attributed to football, including carpal tunnel syndrome, trigger finger, back problems, neuropathy, joint and tendon injuries, and a torn biceps
• Why a torn biceps can be a potential warning sign of transthyretin amyloidosis
• Liz’s early belief that Art’s symptoms were natural consequences of his football career
• When Art’s cardiac symptoms caused Liz to realize something else might be happening
• Art’s history of atrial fibrillation and his initial resistance to medication
• His evaluations through the NFL Player Care Foundation wellness program
• The family health history questions that helped connect Art’s seemingly unrelated symptoms
  • His brother’s heart transplant
  • His nephew’s sickle cell disease, amyloidosis, and earlier genetic test result
  • Why Art’s nephew was originally evaluated for Marfan syndrome
• How genetic testing identified Art’s V122I TTR variant
• The relief of finally understanding the cause of Art’s health problems
• How the diagnosis changed conversations with their 11 children and extended family
• Why family health history may be one of the most valuable legacies a family can preserve
• The difference between carrying a genetic variant and developing symptoms
• Why ancestry can help identify risk but should not be used to exclude someone from consideration
• Art’s mistrust of the medical and pharmaceutical industries, and how his perspective evolved
• What happened when Art reduced and stopped his heart medication without medical guidance
• Why finding a healthcare team that explains the purpose of treatment is so important
• How Liz advocated for Art when she realized he was not following his prescribed treatment plan
• The importance of asking questions and making healthcare decisions with qualified clinicians
• How Art uses humor and personal storytelling to make medical information approachable
• Why Art and Liz founded Still 4 Life
• Meeting people where they are through free community education
• Encouraging families to discuss their health history and advocate for one another
• Turning a hereditary diagnosis into a game plan for a healthier community

About Hereditary ATTR Amyloidosis

Hereditary transthyretin amyloidosis is caused by a disease-associated variant in the TTR gene. The variant makes the transthyretin protein more likely to misfold and accumulate as amyloid deposits in organs and tissues.

Depending on the individual and the specific variant, hereditary ATTR amyloidosis can affect the heart, peripheral nerves, autonomic nervous system, digestive system, kidneys, and other parts of the body. Possible warning signs can include cardiomyopathy, heart failure, irregular heart rhythms, neuropathy, carpal tunnel syndrome, spinal stenosis, tendon injuries, swelling, and digestive symptoms.

Because these concerns are often evaluated by different specialists, and may be attributed to more common conditions, the underlying diagnosis can be missed for years.

Art carries the V122I variant, which is also referred to as V142I or p.Val142Ile under current genetic nomenclature. It is particularly prevalent among people with West African ancestry and is found in approximately 3–4% of Black Americans; however, genetic variants do not conform neatly to racial categories. 

Not everyone who inherits a disease-associated TTR variant develops amyloidosis. Anyone concerned about personal symptoms or family history should discuss appropriate evaluation and testing with a qualified healthcare professional.

About Art Still

Art Still is a former NFL defensive end, College Football Hall of Fame inductee, and rare disease advocate. He was selected by the Kansas City Chiefs with the second overall pick in the 1978 NFL Draft and played 12 professional seasons with the Chiefs and Buffalo Bills.

During his decade in Kansas City, Art earned four Pro Bowl selections and was named the Chiefs’ Most Valuable Player twice. After years of orthopedic, neurologic, and cardiac symptoms, Art was diagnosed with hereditary transthyretin amyloidosis in 2023.

Art now uses the same team-oriented mindset that shaped his football career to educate communities about amyloidosis, family health history, early detection, and self-advocacy.

About Liz Still

Liz Still is Art’s wife, care partner, and advocacy partner. She initially believed that many of Art’s symptoms resulted from his years in professional football. When his cardiac problems became more serious, she recognized that something else might be happening and became an important advocate throughout his diagnostic and treatment journey.

Following Art’s hereditary amyloidosis diagnosis, Liz helped research the condition, understand its implications for their family, and communicate the information to their children and relatives. She now works alongside Art through Still 4 Life, helping families recognize the importance of asking questions, sharing family health history, and advocating for the people they love.

Still 4 Life

Art and Liz founded Still 4 Life to increase awareness and encourage earlier detection of amyloidosis and other rare diseases.

Through free community presentations, they share Art’s personal experience in approachable language and encourage people to:

• Learn and document their family health history
• Discuss patterns of illness with relatives
• Pay attention to symptoms that may appear unrelated
• Ask healthcare providers questions
• Advocate for themselves and their loved ones
• Learn whether a genetics evaluation may be appropriate
• Seek medical guidance before changing prescribed treatment

Community organizations, healthcare professionals, and other groups interested in hosting an educational presentation can connect with Art and Liz through Still4Life.org.

Resources

• Still 4 Life
• Hereditary ATTR Amyloidosis – GeneReviews
• Amyloidosis Research Consortium
• Amyloidosis Foundation
• Art Still’s Patient-Advocacy Story from CHEST
• NFL Alumni Health: Art Still Goes to Washington
• University of Kentucky: Art Still Raises Awareness of Rare Heart Disease

More Cardiac Genetics Episodes of DNA Today

• #389 From Natural History to Gene Therapy: The Future of Danon Disease Research
• #351 Mock Cardiac Genetic Counseling Session
• #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman and McNally
• #283 Cardiogenetics with Blueprint Genetics
• #150 Euan Ashley and Stephen Quake on The Genome Odyssey
• #76 Amy Sturm on Cardiac Genetic Counseling

More Celebrity Interviews on DNA Today

• #404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane
• #402 How Genetic Genealogy Caught the Golden State Killer with Paul Holes
• #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story
• #309 Netflix’s Sandra Lee on Her Breast Cancer and Blue Ribbon Baking Championship
• #241 NBC’s Maury Povich on Paternity Testing
• #192: Osteogenesis Imperfecta with The Middle’s Atticus Shaffer
• #176 Glee’s Lauren Potter on Down Syndrome Awareness

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

This is our seventh installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor and teratogen information specialist Sharon Voyer Lavigne and student Edith Atwerebour perform a mock genetic counseling session. The session indication is medication exposures during pregnancy, including Ozempic®, metformin, Zoloft®, and Xanax®.

This session was recorded in person, providing a more dynamic and engaging learning experience. Therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. 

The Actors:

Edith Atwerebour is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Denise, a 34-year-old woman who is pregnant with her second child and seeking information about medication exposures during pregnancy. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today.

Sharon Voyer Lavigne, MS, LGC, is a licensed genetic counselor, teratogen information specialist, and Coordinator of MotherToBaby Connecticut. She has worked with MotherToBaby Connecticut for more than 28 years and also serves as its Research Coordinator. Lavigne is a Clinical Instructor in the Division of Human Genetics within the Department of Genetics and Genome Sciences at UConn Health. She teaches and trains genetic counseling students, maternal-fetal medicine fellows, OB/GYN residents, and other healthcare professionals.

Lavigne received her Bachelor of Science in Biology from Northeastern University and her Master of Science in Human Genetics/Genetic Counseling from Sarah Lawrence College. Through MotherToBaby, she helps patients and healthcare professionals understand the most current evidence about medications and other exposures during pregnancy and breastfeeding.

Mock Session Overview:

• How genetic counselors establish the approximately 3% background risk for birth defects before discussing specific exposures
• Why the timing, dose, frequency, and duration of a medication exposure matter
• What is currently known, and still unknown, about semaglutide (Ozempic®/Wegovy®) exposure during early pregnancy
• Why controlling type 2 diabetes may be more important than the medication exposure itself
• The role of metformin, insulin, maternal-fetal medicine specialists, and diabetes educators during pregnancy
• What research suggests about sertraline (Zoloft®) use and the risk for structural birth defects
• How untreated anxiety and depression can also affect maternal and pregnancy health
• Possible newborn adaptation symptoms following exposure to certain psychiatric medications
• Why patients should consult their healthcare providers before reducing or discontinuing medication
• How therapy, family support, and postpartum planning can complement medication management
• The role of anatomy ultrasounds and fetal echocardiograms in pregnancy monitoring
• How MotherToBaby helps patients and healthcare providers navigate exposures during pregnancy and breastfeeding

The central takeaway from the session is that Denise’s reported medication exposures are not expected to place the pregnancy at a significantly greater overall risk. Instead, the primary priorities are improving diabetes control, maintaining her mental health, and coordinating care among her obstetrician and other healthcare providers.

MotherToBaby Resources:

MotherToBaby provides free, evidence-based information about medications and other exposures during pregnancy and breastfeeding. Patients and healthcare providers can contact MotherToBaby by phone, text, email, or live chat.

MotherToBaby Pregnancy and Breastfeeding Fact Sheets

MotherToBaby: Semaglutide (GLP-1s like Ozempic®, Wegovy®, Rybelsus®)

MotherToBaby: Metformin (Glucophage®, Glumetza® and Fortamet®) 

MotherToBaby: Sertraline (Zoloft®)

MotherToBaby: Alprazolam (Xanax®, Niravam®, Gabazolamine-0.5®)

Previous Installments of Our Mock Genetic Counseling Session Series:

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

Episode #351: Cardio Session for Sudden Death of a Family Member

Episode #368: Prenatal Session for Increased Nuchal Translucency

Episode #373: Pediatric Session for an Abnormal Cystic Fibrosis Newborn Screening Result

Disclaimer:

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. Medication risks and benefits during pregnancy vary based on the individual, medication, dose, timing, and underlying medical condition.

If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor or another qualified healthcare provider who can provide individualized medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. 

Connect with DNA Today:

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Genetic testing can change the course of a patient’s care, but accessing the right test is not always straightforward.

Behind the scenes, insurance coverage decisions, documentation requirements, prior authorization, denials, appeals, and cost concerns can all influence whether a patient receives timely answers.

In this episode of DNA Today, we launch a new special series sponsored by Revvity in this episode exploring the health economics of genetic testing and the real-world systems that shape access to genomic medicine.

Host Kira Dineen is joined by Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity, and Mackenzie Mosera Derby, a pediatric genetic counselor at UW Health. Together, they examine genetic testing access from both the diagnostic laboratory and clinical perspectives exploring why insurance coverage remains so inconsistent, what goes into a prior authorization, why genetic tests are commonly denied, and how clinicians can approach appeals and peer-to-peer reviews.

In This Episode, We Discuss

• The transition from stacked laboratory procedure codes to codes for genes, panels, exomes, and genomes
• How and why insurance coverage varies among payers and individual health plans
• Coverage differences across hereditary cancer testing, exome sequencing, genome sequencing, reproductive testing, and population screening
• How rapid and ultra-rapid genome sequencing may be covered differently from standard genome sequencing
• The limited coverage available for preventive and population-based genomic testing
• The coordination required among patients, clinicians, laboratories, and insurance companies
• Why laboratories offering tests with similar names may differ in technology, interpretation, turnaround time, and clinical support
• What documentation is typically required for a genetic testing prior authorization
• How clinicians demonstrate medical necessity and clinical utility
• Why professional guidelines and peer-reviewed literature can strengthen an authorization request
• The role laboratories play in benefits investigations, billing assistance, financial support, and prior authorization
• Why laboratories may perform testing without knowing whether they will ultimately be reimbursed
• Common reasons insurance companies deny genetic testing
• Why “this test will not change clinical management” can be an overly narrow interpretation of genetic testing’s value
• How genetic results may inform surveillance, reproductive decisions, recurrence risks, family members, research eligibility, and patient support
• The role of hospital test utilization committees
• Why genetic counselors and geneticists should be represented on utilization review teams
• How letters of medical necessity (LOMN) and peer-to-peer reviews may support an appeal
• Why genetic counselors may be prevented from conducting peer-to-peer reviews, even when they were the ordering provider
• The time clinicians spend educating insurance representatives about genetics
• Why payer policies frequently lag behind genomic technology and professional recommendations
• The importance of detailed clinical documentation and accurate diagnostic coding
• The difference between prior authorization, insurance coverage, and guaranteed payment
• How self-pay pricing and misleading “no-cost” language can create confusion
• The potential devaluation of genetic testing and genetic counseling services through complementary or low cost self-pay options 
• Why improving access requires collaboration among patients, clinicians, laboratories, professional organizations, healthcare systems, and payers

About The Guests 

Madhuri Hegde, PhD, FACMG, is the Senior Vice President and Chief Scientific Officer at Revvity, where she leads the company’s scientific strategy and oversees Revvity Omics’ global network of laboratories.

Dr. Hegde is a medical geneticist and an American Board of Medical Genetics and Genomics-certified diplomate in clinical molecular genetics. Her work focuses on advancing genomic technologies and expanding access to diagnostic testing for patients with rare and inherited conditions. Before joining industry, Dr. Hegde served as Executive Director of the Emory Genetics Laboratory and as a professor of human genetics and pediatrics at Emory University.

She has previously joined DNA Today to discuss whole-genome sequencing, Duchenne muscular dystrophy, and rapid genome sequencing in the neonatal intensive care unit.

Mackenzie Mosera Derby, MS, CGC, is a pediatric genetic counselor at UW Health and the University of Wisconsin–Madison Division of Genetics and Metabolism.

Her work includes pediatric and inpatient genetics, genetic testing utilization, clinical education, and improving the systems through which patients access genetic services.

Mackenzie also teaches genetic counseling students and brings experience examining how documentation, insurance authorization, utilization review, and multidisciplinary collaboration affect patient care.

Resources

• American College of Medical Genetics (ACMG) Evidence-Based Clinical Practice Guidelines (EBGs)
• National Society of Genetic Counselors (NSGC) Billing and Reimbursement Resources (including CPT codes) 
• American Medical Association (AMA) creation of Current Procedural Terminology (CPT®) codes
• Centers for Medicare & Medicaid Services (CMS), which is the U.S. federal agency that provides health coverage to more than 160 million through Medicare, Medicaid, the Children's Health Insurance Program, and the Health Insurance Marketplace. 
• Health literacy paper referenced by Mackenzie sharing that only 12% of U.S. adults had “proficient” health literacy. Data was collected in 2003 and the paper was published in 2006. 
• Revvity website 

 

Related DNA Today Episodes #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida

Dr. Pradeep Bhide and Florida State Representative Adam Anderson discuss the Sunshine Genetics Act and a voluntary newborn genome-sequencing pilot program. The episode examines how earlier genomic testing could shorten the diagnostic odyssey and expand access to rare disease diagnoses for children and families.

#298 Genetic Counselors’ Role in Insurance with Stephanie Gandomi

Genetic counselor Stephanie Gandomi shares her experience working within health insurance and explores prior authorization, payer medical policies, laboratory market access, and the role genetic counselors can play in coverage decisions.

#226 NICU Whole-Genome Sequencing with Hong Li and Madhuri Hegde

Dr. Hong Li and Dr. Madhuri Hegde discuss the use of rapid whole-genome sequencing for critically ill newborns, including how faster diagnoses may affect treatment, medical management, and healthcare utilization.

#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde

Genetic counselor Ann Martin and Dr. Madhuri Hegde explore the genetics of Duchenne muscular dystrophy, available genetic testing options, and emerging treatments.

#177 Whole-Genome Sequencing with PerkinElmer Genomics (aka Revvity)

Dr. Madhuri Hegde explains whole-genome sequencing, how it compares with other genetic testing approaches, and its growing role in diagnosing rare and inherited disorders.

#180 Reproductive DNA Testing with Mitera

This episode explores reproductive genetic testing, including insurance billing, prior authorization, self-pay options, and the financial considerations patients may encounter when pursuing testing.

 

Connect with DNA Today

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

What happens when someone known for strength, stature, and intimidating roles faces a diagnosis most people do not associate with men?

 

Tyler Mane is known for playing Sabretooth in X-Men and Deadpool & Wolverine, Michael Myers in Halloween, and Ajax in Troy. Before his acting career, Tyler spent more than a decade wrestling professionally around the world, including appearances with WCW and UWF as Big Sky and Nitron. Recently, Tyler has taken on a very different role: raising awareness about male breast cancer.

 

Tyler joins host Kira Dineen to share his experience of discovering a breast lump, initially believing it was a lipoma, having his concerns dismissed, and ultimately receiving a breast cancer diagnosis. He opens up about his first instinct to keep the diagnosis private, the embarrassment he initially felt, and what motivated him to speak publicly.

Episode Discussion Topics

• The breast lump that led Tyler to seek medical care
• Why Tyler and his wife, Renae, initially believed the lump was a lipoma
• Having his concerns dismissed and continuing to pursue answers
• Tyler’s first reaction to his breast cancer diagnosis
• The embarrassment and stigma surrounding male breast cancer
• Why he ultimately decided to share his story publicly
• Symptoms and physical changes men should pay attention to
• How masculinity and “toughing it out” can delay medical care
• The importance of self-advocacy and early detection
• How cancer treatment differs from the physical demands of wrestling
• Redefining strength during illness and recovery
• Genetic counseling and germline genetic testing after a male breast cancer diagnosis
• The implications of Tyler’s BRCA2+ genetic testing results for treatment and relatives including his adult children 
• How Tyler’s public image affects the response to his diagnosis
• Tyler and Renae’s upcoming podcast, MANE AF

 

Resources & Links

• Tyler Mane’s Breast Cancer Announcement Instagram Video
  • @TheRealTylerMane
  • @ManeAFpod
• NCCN Patient Resources for Breast Cancer
  • NCCN patient resources are based on the same treatment information your doctors use and help you talk to your doctor about the best treatment options for your disease.
• National Cancer Institute: Breast Cancer in Men
  • The National Cancer Institute provides an overview of male breast cancer symptoms, diagnosis, treatment, genetic testing, and questions patients may want to discuss with their healthcare teams. The NCI notes that inherited variants in BRCA1, BRCA2, and other genes may influence treatment and have implications for relatives.
• Facing Our Risk of Cancer Empowered (FORCE)
  • FORCE provides education, peer support, advocacy, research updates, and resources for people and families affected by inherited cancer risk, including BRCA1, BRCA2, PALB2, ATM, CHEK2, and other genes.
• Find a Genetic Counselor
  • The National Society of Genetic Counselors’ (NSGC) directory can help patients locate a genetic counselor specializing in cancer genetics, either locally or through telehealth.
• Cancer Genetic Testing
  • Genetic testing panels vary with how many genes are included. Healthcare providers can order just one gene or around a hundred, and everything in between. Tyler mentioned his possibly including 85, which is plausible. 

 

Relevant DNA Today Podcast Episode

• #360 Hereditary Breast Cancer on the Big Screen with Love, Danielle
  • Actress and filmmaker Devin Sidell and hereditary cancer advocate Amy Byer Shainman discuss the film Love, Danielle, Devin’s experience with a BRCA1 pathogenic variant, hereditary breast cancer, preventive surgery, family communication, and using storytelling to increase awareness.
• #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
  • This episode explores hereditary breast cancer testing, the genes included on breast cancer panels, and how researchers evaluate which genes have sufficient evidence to guide clinical care.
• #159 Black Cancer Genes on Breast Cancer
  • Attorney and BRCA advocate Erika Stallings and genetic counselor Dena Goldberg discuss breast cancer genetics, BRCA1 and BRCA2, racial disparities in cancer genetics, and improving access to genetic counseling and testing in the Black community.
• #165 Sequencing for Cancer Risk with Sandra Balladares
  • Scientist and breast cancer survivor Dr. Sandra Balladares shares her experience with breast cancer and discusses how genomic sequencing can identify inherited cancer risk, particularly within historically underserved populations.
• #81 Irina Brooke on BRCA2
  • Patient advocate Irina Brooke shares her BRCA2 journey, including genetic counseling, genetic testing, cancer-risk management, and supporting people and families affected by hereditary cancer.
• #25 Hereditary Cancer Syndromes with Ellen Matloff and Amy Byer Shainman
  • Hereditary cancer experts Ellen Matloff and Amy Byer Shainman discuss BRCA-associated cancer risks, genetic counseling, genetic testing, breast and ovarian cancer, and the documentary Pink & Blue, which includes the experiences of men affected by breast cancer.

 

Connect with DNA Today

You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

Preparing for the genetic counseling board exam can feel overwhelming. Between the extensive study materials, challenging practice questions, and uncertainty about what to expect on exam day, candidates often struggle to determine where to begin and how to use their preparation time effectively.

In this episode of DNA Today, host Kira Dineen is joined by Melanie Hardy and Amy Shikany to explore the new and updated resources available to candidates preparing for the American Board of Genetic Counseling (ABGC) Certification Examination.

Melanie Hardy is the 2026 President of ABGC, and Amy Shikany is ABGC President-Elect and a past Chair of the Certification and Education Committee.

Together, they discuss ABGC’s Certify webpage, the new CGC self-study guide, the approved references list, a new student webinar, and the updated practice examination that launched on June 15, 2026. They also take listeners behind the scenes of how the certification exam is developed, reviewed, and maintained.

 

Discussion Topics:

• What the ABGC Certification Examination is designed to assess
• Where candidates should begin when navigating ABGC’s certification and exam resources
• How to use the exam content outline when developing a study plan
• Why ABGC created its new CGC self-study guide
• How candidates can use the self-study guide alongside the approved references
• What candidates can expect from ABGC’s new student webinar
• How questions for the certification exam are written and reviewed
• What makes a strong “one best answer” board-exam question
• How ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerations
• What has changed in the updated ABGC practice examination
• How closely the practice exam reflects the structure and reasoning required on the certification exam
• How candidates should interpret their practice-exam results
• How the passing standard for the certification exam is determined
• Preparation steps candidates should take before exam day
• Encouragement and next steps for candidates who do not pass on their first attempt
• How certified genetic counselors can contribute to the development and maintenance of the examination

One clarification from the conversation: candidates are provided access to a simple calculator during the certification exam.

 

About the Guests

Melanie Hardy, MS, CGC is the 2026 President of the American Board of Genetic Counseling. Through her leadership with ABGC, she supports the organization’s work to establish and maintain certification standards for the genetic counseling profession and provide resources for current and future certified genetic counselors.

 

Amy Shikany, MS, CGC is President-Elect of the American Board of Genetic Counseling and a past Chair of ABGC’s Certification and Education Committee. Her work with ABGC has included supporting the development, review, and ongoing maintenance of the genetic counseling certification examination.

 

Resources Mentioned

• American Board of Genetic Counseling (ABGC) website
• Introducing the New CGC® Logo & Digital Badge
• ABGC Certify 
  • Eligibility Requirements
  • Certification Process, Exam and Fees
  • Need-Based Certification Scholarship
• ABGC CGC Exam Resources
  • Candidate Guide (Start here)
  • Exam Content Outline
  • Self Study Guide 
    • Syndromes and Disorders List on Pages 19 and 20
  • Practice Exam
  • Examination References 
  • Exam Performance Taskforce Report
  • Student Webinar (Coming Soon)

Relevant DNA Today Episodes:

• #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors — Monica Marvin, Dr. Claire Davis, and Heather Rich explain ABGC’s new Continuing Competence Learning Scenarios, how the requirement fits into recertification, and what certified genetic counselors need to know.
• #295 Genetic Counseling Board Exam Updates with ABGC — ABGC President Angela Trepanier and Executive Director Heather Rich provide an inside look at the certification exam, including exam development, scoring, administration, costs, financial assistance, equity, and available resources.
• #235 Genetic Counseling History: ABGC Formation — Seasoned genetic counselors Ann Walker and Ed Kloza share about the formation of ABGC
• #138 Genetic Counseling Boards Advice — Three genetic counselors share their experiences preparing for and taking the board exam, including study schedules, review courses, subject areas, resources, and balancing studying with work.
• #126 Adam Buchanan on ABGC Boards Exam — Then-ABGC President Adam Buchanan answers listener questions about the exam’s structure, content, study resources, scoring, results, testing accommodations, cost, and inclusivity.
• #57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst opens up about how Lynch syndrome has affected her and her family. This episode was mentioned towards the end of the interview. 

 

Connect:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What happens when DNA from a decades-old crime scene meets a family tree created generations later?

That combination helped investigators identify the Golden State Killer and transformed how law enforcement approaches some of the country’s most difficult cold cases.

Content warning: This episode includes discussions of murder, sexual assault, suicide, and other sensitive topics.

In this episode of DNA Today, host Kira Dineen speaks with Paul Holes, a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, Paul worked on some of the most infamous cases in American criminal history, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the investigation that ultimately identified Joseph DeAngelo as the Golden State Killer.

Paul is also the author of Unmasked: My Life Solving America’s Cold Cases, co-host of the podcast Small Town Dicks, and one of the investigators featured in the television special Celebrity Crime Scene: Marilyn Monroe, available on Hulu.

We explore the science, strategy, and ethical complexity behind cold-case investigations. Paul shares how investigators determine whether decades-old evidence still holds value, what kind of DNA evidence would be needed to scientifically resolve the Zodiac case, and why older biological samples create difficult decisions about whether to test now or preserve evidence for future technologies.

The episode also dives into the landmark investigation that identified the Golden State Killer. Paul walks through how traditional forensic DNA databases failed to produce a match, why investigative genetic genealogy changed the direction of the case, and how distant relatives’ DNA helped investigators build family trees that eventually led to Joseph DeAngelo.

Later in the episode, Paul discusses his latest project, Celebrity Crime Scene: Marilyn Monroe, and how modern virtual reconstruction can be used to reexamine a historic death scene more than six decades later.

Episode Discussion Topics

• Cold-case investigations and how evidence is reexamined decades later
• How investigators decide which biological samples may still have forensic value
• The Zodiac Killer case and what would be needed to consider it scientifically solved
• The challenges of DNA evidence from stamps, envelopes, letters, and other handled items
• Why finite evidence creates difficult decisions about testing now versus waiting for future technology
• The role of DNA in linking the Golden State Killer crimes before a suspect was identified
• Why traditional forensic DNA databases did not solve the case
• How investigative genetic genealogy helped generate a new lead
• How distant relatives’ DNA can help identify someone who never uploaded their own DNA
• The scientific and investigative process behind building genealogical trees from crime-scene DNA
• How investigators narrowed family branches until Joseph DeAngelo became a viable suspect
• Reconstructing Marilyn Monroe’s final hours using virtual crime-scene technology
• What records, photographs, reports, and witness statements can reveal in historical case reviews

About Paul Holes

Paul Holes is a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, he investigated some of the country’s most complex and high-profile cases, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the Golden State Killer case.

Paul’s work helped bring national attention to the power of investigative genetic genealogy, particularly through the identification of Joseph DeAngelo as the Golden State Killer. He is the author of Unmasked: My Life Solving America’s Cold Cases, co-host of Small Town Dicks, and appears in Celebrity Crime Scene: Marilyn Monroe.

Resources

• Unmasked: My Life Solving America’s Cold Cases by Paul Holes
• Small Town Dicks podcast
• Celebrity Crime Scene: Marilyn Monroe, available on Hulu

Relevant DNA Today Podcast Episode

#326: How DNA Solves Crimes: The Forensic Science Behind True Crime

#131: DTC Series: Libby Copeland on Law Enforcement Use of Genetic Databases

#130 DTC Series: Anne Greb on 23andMe

Connect

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Just a few years ago, there were no pharmacological treatments for patients with achondroplasia. Today, with multiple therapies on the market, the conversation has shifted from if we can treat to how we treat safely, consistently, and thoughtfully. 

In this third and final installment of our achondroplasia series, sponsored by BioMarin, we explore the recently published international consensus guidelines for vosoritide. These guidelines provide a roadmap for the entire treatment lifecycle, from the initial diagnosis and counseling to initiation, monitoring, and eventually, the transition off therapy.  You can review the prescribing information for vosoritide here with additional safety information, including about the risk of low blood pressure.  

Joining us in-person all the way from Australia is the lead author of these guidelines, Dr. Ravi Savarirayan. Dr. Savarirayan is a global leader in skeletal dysplasia and has been a driving force in the clinical development of vosoritide from its earliest stages. 

 

Topics Discuss: 

 

The Journey of Vosoritide: Dr. Savarirayan shares his personal "why", from the early research phases to the clinical trials that changed the landscape of skeletal dysplasia care. 

 

Precision Medicine at the Molecular Level: How vosoritide acts as the first precision medicine approved for achondroplasia by targeting and counteracting overactive FGFR3 signaling, along with important safety information such as a risk for low blood pressure 

 

The International Guidelines: Why a global consensus was necessary and how it addresses gaps in real-world clinical practice. 

 

The Treatment Lifecycle: 

 

• Counseling: Setting expectations and having the first conversation with families. 

• Initiation: Practical tips for daily subcutaneous injections and establishing a routine. 

• Safety & Monitoring: How clinicians monitor growth and manage safety considerations like hypotension across different age groups. 

• Discontinuation: How to navigate growth plate closure and the transition off therapy. 

The Future of Care: How these guidelines will evolve as we gather more long-term, real-world data. 

 

Our Guest Dr. Ravi Savarirayan: 

 

Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. 

 

Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA). 

 

Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries.  

 

His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow. 

 

Summary:  

We talk about the journey to vosoritide, Dr. Ravi’s personal history with achondroplasia research, published treatment guidelines and how vosoritide is approved under accelerated approval to increase linear growth in pediatric patients with achondroplasia with open epiphyses.  We also discuss the most serious side effect seen—transient decreases in blood pressure, which is why patients should have adequate food and fluid intake prior to administration.  We also cover that it is a daily injection and that injection site reactions are the most common side effect and some patients also experienced vomiting, injection site urticaria, arthralgia, decreased blood pressure, and gastroenteritis.  Those aren't all the side effects, so please refer to the prescribing information here for more information about vosoritide. 

 

Relevant Resources:  

Savarirayan, R., Hoover-Fong, J., Ozono, K. et al. International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia. Nat Rev Endocrinol 21, 314–324 (2025). https://doi.org/10.1038/s41574-024-01074-9 

 

Here is a list of Dr. Ravi Savarirayan’s publications, there are far too many to list them all here.   

 

Dr. Ravi Savarirayan Video Explaining Vosoritide  

 

 

Relevant DNA Today Episodes:  

• #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer  

• #301 Dwarfism with Colleen Gioffreda  

• #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders)  

• #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains (Biomarin’s Sponsored Series First Installment) 

• #385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity 

• #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs (Biomarin’s Sponsored Series Second Installment)  

 

Connect With Us:   

Luckily, you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” 

Prefer watching? We’ve got you covered! For years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. Our makeup artist for recordings at NBC Universal is Sharon DeMasi. Our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Four hundred episodes. Nearly fourteen years of conversations. One podcast that began with a high school student, a Rock Band microphone, and a deep curiosity about genetics.

For this milestone episode, DNA Today is turning the microphone around. Kira Dineen is joined by Jess Rizzo, a 2026 graduate of the Rutgers University Genetic Counseling Master’s Program, to look back at the evolution of DNA Today, from its earliest episodes in 2012 to becoming a multi-award-winning genetics podcast and the foundation for Gene Pool Media.

Kira shares how the original idea for DNA Today came together, where the name came from, and what she remembers about recording those first episodes. She also reflects on the major turning points that shaped the podcast, including its first sponsorship, conversations with prominent leaders in genetics, and interviews that changed how she thinks about both science and storytelling.

The conversation explores what makes someone an effective science communicator, what separates a good podcast guest from an unforgettable one, and how DNA Today expanded into Gene Pool Media. Kira also looks ahead to the future of the podcast and considers whether the version of herself who started the show in 2012 could ever have imagined reaching Episode 400.

The episode concludes with a rapid-fire round of “DNA Today Superlatives,” featuring Kira’s dream guests, proudest episode production, most surprising topics, most popular episode, and the conversations that have had the greatest personal impact on her.

An exciting announcement, since recording we learned we have been ranked number one on Million Podcast’s list of “Best DNA Podcasts in the US”.  

Thank you to our audience for sticking with us! Whether you have been listening since 2012, or last week. We appreciate your support in growing DNA Today over the last 14 years. 

About Host Kira Dineen

Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has 15 years of podcast experience fueled by a passion for science communication. She has hosted and/or produced a dozen podcasts, many of which are in her science podcast network: Gene Pool Media. Her flagship show, DNA Today, is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show has won the Best Science and Medicine Podcast Award for three years, among others. Over the last 14 years, DNA Today has produced over 400 episodes with support from over 100 sponsors. She was accepted into The Podcast Academy and previously served on the National Society of Genetic Counselor’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a practicing licensed certified genetic counselor at a high risk pregnancy center in Connecticut. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics. 

In This Episode, We Discuss

• How DNA Today began in 2012
• The story behind the podcast’s name
• What the earliest recordings were like
• How the show has evolved over 400 episodes
• Major episodes and guests that shaped the direction of the podcast
• The first DNA Today sponsorship on Episode 100 (shoutout KGI) 
• What makes a strong science communicator
• The qualities that make a podcast guest memorable
• How Gene Pool Media grew out of DNA Today
• The lessons Kira has learned from interviewing patients, families, researchers, genetic counselors, physicians, advocates, and other experts
• The future of DNA Today and Gene Pool Media
• Kira’s favorite, most impactful, and most surprising episodes

DNA Today Episodes Referenced

• #25: Hereditary Cancer Syndromes with Ellen Matloff 
• #110: Analyzing Gattaca
• #142 Barbara Fortini on KGI’s Genomic Data Analytics
• #100: Human Hereditary with Carl Zimmer
• #211: Gene Patents with Jorge Contreras 
• #264: XXY/Klinefelter Syndrome with Ryan Bregante
• #288 and #289: Sickle Cell Disease CRISPR Treatment with Victoria Gray
• #300: “The Man with 1,000 Kids” Netflix Doc with Eve Wiley and Laura 
• #306: Human Genome Project and COVID-19 Leadership with Dr. Francis Collins
• #370: Genetics Wrapped: 2025 Top Advances in Genomic Medicine with Drs. Eric Green and Sarah Tishkoff
• #390: Pfeiffer Syndrome with Prince’s Wife/Co-Parent, Mayte Garcia

Additional Resources Referenced

• • Gene Pool Media: The Science Podcast Network
    • Listen & Learn: A Rare Disease Podcast Course by Gene Pool Media
    • DNA Dialogues: The Official Podcast of the Journal of Genetic Counseling 

• DNA Clarity and Support Podcast

• All Access DNA Podcast 

• Mugglecast: A Harry Potter Podcast (2005-Present)
• Keck Graduate Institute 
  • Master of Science in Human Genetics and Genetic Counseling
  • Master of Science in Human Genetics and Genomic Data Analytics
• My Gene Counsel 
• “My Medical Choice” Angelina Jolie’s NTY Op-Ed Piece
• The Most Beautiful: My Life with Prince A Memoir By Mayte Garcia

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What condition helped spark the creation of newborn screening in the United States? It was Phenylketonuria, or PKU, a rare inherited metabolic disorder that forever changed how we identify and treat genetic conditions from the very start of life.

In this in-person episode of DNA Today, we kick off a three-part series on phenylketonuria, better known as PKU, by looking at how one condition became central to a major public health shift. Host Kira Dineen is joined in person by Sarah Chamberlin and Ryan Miller to explore the scientific, clinical, historical, and deeply personal sides of PKU.

We explore the history of newborn screening itself, including the work of Dr. Robert Guthrie and the development of the Guthrie card. Sarah brings a remarkable piece of history to the recording: the original stamp used to create early Guthrie cards.

Ryan, Sarah, and Kira unpack why PKU remains both a newborn screening success story and an ongoing challenge. From treatment access and medical nutrition coverage to state-by-state differences in newborn screening panels and the promise and complexity of newborn sequencing, this episode shows why PKU is still shaping conversations about genetics, public health, and rare disease care.

Thank you to PTC Therapeutics for sponsoring this three-part series on PKU.

Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice.

Episode Discussion Topics

• Why PKU helped launch newborn screening in the United States
• What life was like for individuals with PKU before newborn screening
• How PKU affects the body on a metabolic level
• The role of phenylalanine hydroxylase deficiency
• Why elevated phenylalanine levels can impact brain development
• Dr. Robert Guthrie’s role in developing newborn screening
• The history and significance of the Guthrie card
• Sarah’s experience learning her daughter’s newborn screen was flagged for PKU
• What confirmatory testing and early treatment looked like for Izzy
• How newborn screening panels vary across states
• What the Recommended Uniform Screening Panel, or RUSP, is
• Gaps in access to medical formula and low-protein medical foods
• Why insurance coverage remains a major challenge for families
• The promise and concerns around newborn sequencing
• How clinicians can better support newly diagnosed families
• Why connecting families with community early can be life-changing
• The need for more metabolic geneticists, genetic counselors, and dietitians

Guest Bios

Sarah Chamberlin is a parent of a child with PKU and a founder and the Chief Program Officer of flok, a patient advocacy organization supporting individuals and families affected by inherited metabolic disorders.

Ryan Miller is Senior Director, Field Medical Lead at PTC Therapeutics on the U.S. Medical Affairs Metabolism team, where he supports PKU. He is trained as a genetic counselor.

Resources

• PKU / Phenylketonuria
• Phenylalanine hydroxylase deficiency ACT Sheet
• The Newborn Screening Information Center (NBSIC)
• Recommended Uniform Screening Panel, or RUSP
• RUSP overview for families
• ACMG Newborn Screening ACT Sheets and Algorithms
• flok health
• Baby’s First Test: Newborn Screening Information
• National PKU Alliance
• Guthrie-Kock Scholarships from flok
• David’s story of learning of an older brother with PKU who was institutionalized

Referenced DNA Today Podcast Episode

• #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida

Connect With Us

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What if the future of human health doesn’t just begin in the clinic, but in the soil?

In this episode of DNA Today, we explore the new documentary Groundswell, the final chapter in the regenerative agriculture documentary trilogy that began with Kiss the Ground and continued with Common Ground. Narrated by Demi Moore and Woody Harrelson, Groundswell follows regenerative agriculture solutions across five continents, showing how restoring soil health can support biodiversity, food systems, local economies, climate resilience, and human health.

This episode takes DNA Today into a different but deeply relevant corner of genetics and genomics. While we often focus on human genetics, Groundswell broadens the lens to show how genetics is embedded in entire ecosystems.

Soil is alive with microbial diversity. Plants depend on complex relationships with bacteria, fungi, insects, and the environment around them. Crop diversity and seed diversity can influence resilience to drought, pests, disease, and changing climate conditions. Human health is also shaped not only by our DNA, but by the environments we live in, the food we eat, the water we drink, the chemicals we are exposed to, and the microbes we encounter.

Joining us are Nikki Reed, co-producer of Groundswell, and Rebecca Harrell Tickell, co-director of the film. 

About Nikki Reed

Many listeners will know Nikki from her role as Rosalie Hale in The Twilight Saga, as well as her work in Thirteen, which she co-wrote and starred in, and her role in The O.C. Beyond acting, Nikki is also a filmmaker, farmer, entrepreneur, and environmental advocate.

About Rebecca Harrell Tickell

Rebecca Harrell Tickell is an award-winning filmmaker, producer, and environmental activist whose work includes Kiss the Ground, Common Ground, and now Groundswell. Through this trilogy, Rebecca and her collaborators have helped bring regenerative agriculture into mainstream conversations about climate, food, health, and the future of farming.

In This Episode, We Discuss

• How Nikki Reed’s experience in Twilight shaped the way she thinks about storytelling, cultural influence, and using her platform for impact
• Why Nikki became involved in regenerative agriculture and how her connection to food, farming, and environmental advocacy became personal
• What regenerative agriculture means and how it differs from conventional agriculture
• Why healthy soil is not just “dirt,” but a living ecosystem filled with microbes, fungi, roots, insects, and organic matter
• How soil health connects to plant health, nutrient cycling, water retention, and ecosystem resilience
• Why biodiversity matters above and below ground, from soil microbial communities to crops, pollinators, insects, animals, and humans
• How regenerative agriculture reframes food systems as regionally specific, community-based, and connected to local ecosystems
• The connection between food, chemical exposures, the environment, and gene-environment interactions
• Why the guests see regenerative agriculture as both a practical solution and a hopeful movement
• How storytelling can help make complex topics like soil science, microbes, farming systems, and climate resilience more accessible

Fact Check & Context

This episode includes a passionate discussion about regenerative agriculture, pesticides, cancer, fertility, carbon, and soil health. As with many topics at the intersection of environment and health, the science is complex. Here are a few important clarifications and sources for our audience members who want to dig deeper.

Cancer Rates

The episode references concern about rising cancer rates, including pediatric cancer and cancers in younger adults. The most accurate summary is nuanced. For childhood and adolescent cancers in the U.S., a 2025 analysis found that age-standardized cancer incidence increased from 2001 to 2016, then decreased from 2016 to 2022. Cancer death rates among U.S. youth ages 0–19 also declined 24% from 2001 to 2021, according to CDC/NCHS data. Read the study in Cancer Discovery.

At the same time, early-onset colorectal cancer has clearly been increasing. The American Cancer Society reports that colorectal cancer death rates in adults under 50 have increased by about 1% per year since 2004, even as rates have declined among many older adults. Researchers are actively studying potential contributors, including diet, obesity, sedentary behavior, environmental exposures, microbiome changes, and other factors, but there is not one single proven cause. Read more from the American Cancer Society.

Pesticides, Epigenetics, and Fertility

The episode discusses pesticides and their potential effects on human health. A careful way to frame this is that some pesticide exposures have been associated with biological effects, including possible epigenetic changes and reproductive health concerns, especially at higher or occupational exposure levels. 

Risk depends on the specific chemical, dose, route of exposure, timing, and individual susceptibility. For glyphosate specifically, there is disagreement among major scientific and regulatory bodies. The U.S. Environmental Protection Agency states that it does not agree with the International Agency for Research on Cancer’s conclusion that glyphosate is “probably carcinogenic to humans.” EPA’s position is that glyphosate is not likely to be carcinogenic to humans when used according to current labeling, while IARC classified glyphosate as “probably carcinogenic to humans” in 2015. Read EPA’s glyphosate overview.

There is also research connecting some pesticide exposures with male fertility markers. A 2022 review found epidemiological evidence supporting associations between pesticide exposure and male fertility outcomes, including semen quality, particularly among workers and exposed populations. Read the review in Toxics.

Soil Carbon and Climate

Regenerative agriculture and improved soil health can play an important role in carbon storage, water retention, and climate resilience. However, soil carbon sequestration should be understood as one climate tool, not a complete solution on its own. Fossil fuel emissions remain the dominant driver of human-caused carbon dioxide emissions.

The Global Carbon Project projected total anthropogenic CO₂ emissions from fossil fuels and land-use change at about 41.6 GtCO₂ in 2024, with fossil CO₂ emissions alone projected at 37.4 GtCO₂. This means land management matters, but reducing fossil fuel emissions remains essential. Read the Global Carbon Budget 2024.

Soil Degradation

The episode discusses major global soil loss and degradation. A commonly cited estimate from the Food and Agriculture Organization of the United Nations is that nearly one-third of the world’s soils are degraded, posing a serious threat to food security. Soil degradation can include erosion, loss of organic matter, nutrient depletion, contamination, salinization, compaction, and reduced biodiversity. Because estimates vary depending on definitions and measurement methods, overly specific claims about the exact amount of topsoil lost should be interpreted with caution unless tied to a specific source. Read more from FAO.

Nutrient Density and Food Quality

The film and episode discuss the idea that regenerative agriculture can support more nutrient-dense food. There is emerging research suggesting that soil health, microbial diversity, plant biodiversity, and farming practices may influence nutrient profiles in food. However, this is still an active area of research, and outcomes likely vary by crop, region, soil type, farming system, and measurement method.

A 2025 review in Frontiers in Nutrition describes regenerative agriculture as a promising pathway for producing nutrient-dense crops while also noting significant gaps in quantifiable research and policy needed for broader adoption. Read the review in Frontiers in Nutrition.

Watch Docuseries 

• Watch Kiss the Ground on Prime Video (First in Doc Series)
• Watch Common Ground on Prime Video (Second in Doc Series)
• Watch Groundswell on Prime Video (Third in Doc Series)

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Recertification is changing for genetic counselors. The American Board of Genetic Counseling (ABGC) now requires completion of new Continuing Competence Learning Scenarios as part of maintaining the CGC credential.

These are not traditional quizzes with one correct answer. Each scenario presents a complex genetic counseling situation, followed by reflective questions, peer rationales, and educational resources designed to support lifelong learning and continuing competence.

To help us understand why this change was made and what genetic counselors need to know, we are joined by three guests from ABGC: Monica Marvin and Dr. Claire Davis, co-chairs of ABGC’s Continuing Competence Committee, and Heather Rich, Executive Director at Smithbucklin, who manages ABGC operations.

We break down why these Learning Scenarios were created, how the requirement works, what counts toward recertification, and how ABGC is approaching competence in a field where many real-world situations are nuanced, reflective, and shaped by context.

 

In This Episode, We Discuss:

• Why ABGC reevaluated the recertification process for certified genetic counselors
• What was missing from a recertification model based primarily on CEUs or reexamination
• What Continuing Competence Learning Scenarios are, and what they are not
• How these scenarios differ from traditional quizzes or tests
• Why there may be more than one thoughtful way to respond to a complex genetic counseling situation
• How panelist rationales help Diplomates understand the reasoning of other competent practitioners
• How the new requirement is being phased in based on recertification cycle
• What genetic counselors in current recertification cycles need to know about voluntary scenario completion
• How each scenario earns 0.1 CEU and how those CEUs fit into existing recertification requirements
• How often new Learning Scenarios will be published
• How scenarios are developed and reviewed by ABGC’s Continuing Competence Committee
• Why review by the DEIJ Committee is an important part of the process
• How Learning Scenarios can address complex topics such as bias, cultural humility, access, identity, and patient-centered care
• Whether future scenarios may expand beyond patient-facing clinical roles to include genetic counselors working as medical science liaisons, variant curators, educators, and other nontraditional roles

  The Panel:

Monica Marvin, MS, CGC, is the Program Director for the University of Michigan Genetic Counseling Graduate Program and Clinical Professor of Internal Medicine and Human Genetics at the University of Michigan. Monica was the inaugural President of the Michigan Association of Genetic Counselors, the 2011 Chair of the National Society of Genetic Counselors Access and Service Delivery Committee and the 2014 Chair of the National Society of Genetic Counselors Payor Subcommittee. She also served on the Board of Directors for the National Society of Genetic Counselors in 2016 and 2017 and is a current member of the Accreditation Council of Genetic Counselors Program Review Committee. In addition, Monica serves on the Advisory Board for multiple genetic counseling programs, and is the co-chair of the American Board of Genetic Counselors Continuing Competence Committee. She received the 2014 Strategic Leader award from the National Society of Genetic Counselors and was instrumental in the 2018 passage of legislation to license genetic counselors in the state of Michigan. She is passionate about the provision of high-quality genetic counseling services.

 

Claire Davis, EDD, MS, CGC has contributed to the learning, growth, and development of genetic counselors for 19 years. She received her Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai in 2007. She earned a doctorate in Adult Learning and Leadership from Teachers College, Columbia University, completing a dissertation on how genetic counselors learn to incorporate innovations into their practice. A deep love of GC education prompted her to serve as a genetic counseling program director, course director, clinical supervisor, thesis advisor, simulation facilitator, committee volunteer, and author of articles and a book. She is currently Director of Curriculum for the Institute for Genomics at Sarah Lawrence College and Co-director of the Genome Health Analysis master’s program co-created with NYU Langone’s Grossman School of Medicine.

 

Heather Rich, MPA, ICE-CCP, is an Executive Director with Smithbucklin, bringing over 20 years of experience in certification, including oversight of more than 23 credentialing programs. She currently serves as Executive Director for the American Board of Genetic Counseling (ABGC). Ms. Rich possesses extensive expertise across all facets of certification, including governance, program development, and accreditation standards. She has successfully led multiple organizations through reaccreditation processes with both the American Board of Specialty Nursing Certification (ABSNC) and the National Commission for Certifying Agencies (NCCA). In addition to her professional responsibilities, Ms. Rich has been an active volunteer with the Institute for Credentialing Excellence since 2014 and currently serves as a Public Member on the Rehabilitation Nursing Certification Board.

 

Earn CEUs with Gene Pool Media’s “Listen and Learn” Course

Are you a genetic counselor looking to earn CEUs, but struggling to find the time to sit down and complete them? Gene Pool Media has you covered with Listen & Learn: A Rare Disease Podcast Course. 

This affordable CEU course allows you to earn credits by listening to a curated playlist of podcast episodes from Gene Pool Media shows, including DNA Today and All Access DNA, and completing a few short quizzes. The course features episodes focused on rare diseases and includes 10 hours of podcast content, meaning you can earn 1.0 CEU.

Whether you are commuting, at the gym, or relaxing at home, Listen & Learn makes it easy to learn, reflect, and earn CEUs through the power of storytelling.

Visit TheCEUShop.org/podcast to get started.

Resources and Links 

How to Complete an ABGC Continuing Competence Learning Scenario

ABGC Continuing Competence Learning Scenarios

ABGC: How to Recertify

ABGC Recertification Handbook

ABGC Continuing Education Standards

ABGC Committees in Action: Recent Developments and Plans

ABGC Portal

 

Related DNA Today Episodes

• #312 What is a Genome Health Analyst? Exploring NYU and Sarah Lawrence's New Master’s Program (with Dr. Claire Davis) 
• #295 Genetic Counseling Board Exam Updates with ABGC (with Heather Rich)
• #235 Genetic Counseling History: ABGC Formation 
• #138 Genetic Counseling Boards Advice
• #126 Adam Buchanan on ABGC Boards Exam

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Anxiety is one of the most common mental health conditions, but for many people, it can also feel deeply isolating. Current treatments such as therapy, SSRIs, and benzodiazepines can be life-changing, but they do not work for everyone, and they often manage symptoms rather than addressing the underlying biology of anxiety.

In this episode of DNA Today, host Kira Dineen is joined by Dr. Troy Rohn, neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. Dr. Rohn is also the author of Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, a brand new book exploring how CRISPR, RNA interference, neurogenetics, and precision psychiatry could reshape the future of mental health treatment.

We take a deeply personal and scientific look at anxiety. Dr. Rohn shares how his own experiences with chronic anxiety and PTSD helped inspire his work, while also explaining the brain biology behind anxiety, including the roles of serotonin, GABA, the amygdala, hippocampus, insula, and thalamus.

A major focus of the episode is the 5-HT2A serotonin receptor, produced through the HTR2A gene, and why this receptor has become an important target in Dr. Rohn’s preclinical research. Kira and Dr. Rohn explore how today’s treatments broadly influence serotonin signaling, while emerging gene-based approaches may someday allow researchers to more precisely reduce or silence specific pathways involved in anxiety.

The episode also breaks down the difference between CRISPR gene editing and RNA interference, including why reversibility, safety, off-target effects, and long-term consequences matter so much when discussing potential therapies for the brain. Dr. Rohn also explains one of the biggest challenges in the field: getting therapies across the blood-brain barrier.

Because this science is still preclinical, the conversation also focuses on how to talk about hope responsibly. Could gene therapy someday help treat anxiety at its source? Possibly. But there are major scientific, regulatory, ethical, and access questions that need to be answered before these approaches could become part of clinical care.

 

In This Episode, We Discuss:

• The lived experience of anxiety, PTSD, and chronic hypervigilance
• Why anxiety is shaped by both genes and environment
• How current anxiety treatments work, including SSRIs, benzodiazepines, CBT, and service animals
• Why SSRIs can help some people but fall short for others
• The role of serotonin, GABA, and brain circuits in anxiety
• What the 5-HT2A receptor is and why it matters
• How the HTR2A gene leads to production of the 5-HT2A receptor protein
• The difference between broadly changing serotonin levels and targeting a specific receptor pathway
• How CRISPR could be used to make more permanent DNA changes
• How RNA interference could offer a more temporary or reversible way to reduce gene expression
• What preclinical animal studies can and cannot tell us
• Why the blood-brain barrier is such a major challenge for brain-targeted therapies
• Ethical questions around using gene therapy for mental health conditions
• How to balance scientific excitement with caution and realistic expectations

 

Guest Bio

Dr. Troy Rohn is a neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. His research has focused on neurological disorders, including Alzheimer’s disease, anxiety, and memory impairment. In his book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, Dr. Rohn explores how gene therapy, CRISPR, RNA interference, and precision psychiatry could open new possibilities for treating anxiety and other brain-based conditions.

 

About the Book

Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders explores the future of mental health treatment through the lens of gene therapy and neurogenetics. Blending personal story with neuroscience, Dr. Troy Rohn examines how technologies like CRISPR and RNA interference may one day allow researchers to target anxiety-related pathways with greater precision than current medications.

The book also addresses the scientific and ethical complexities of this field, including safety, access, regulatory approval, the blood-brain barrier, and the challenge of moving from promising preclinical research to human clinical trials.

 

Key Terms

5-HT2A receptor: A serotonin receptor involved in brain signaling, mood, perception, cognition, and emotional processing.

HTR2A gene: The gene that provides instructions for making the 5-HT2A serotonin receptor.

SSRI: Selective serotonin reuptake inhibitor, a class of medications commonly used to treat anxiety and depression by increasing serotonin availability in the brain. Examples are Lexapro, Zoloft, Prozac, Paxil, among others. 

CRISPR: A gene-editing technology that can be used to make targeted changes to DNA.

RNA interference: A process that can reduce or silence gene expression by targeting RNA before a protein is made.

Blood-brain barrier: A protective barrier that helps regulate what substances can enter the brain from the bloodstream, making delivery of brain-targeted therapies especially challenging. Blood-brain border might be a more accurate and helpful term as some molecules are allowed past. 

Precision psychiatry: An emerging approach that aims to tailor mental health treatment based on a person’s biology, genetics, symptoms, and lived experience.

 

Resources & Links:

Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders by Dr. Troy Rohn

Cognigenics

 

Relevant DNA Today Podcast Episode:

#198 CRISPR Ethics with Sam Sternberg

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1

#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2

#304 HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch

#343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure

#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 395 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What if we could study melanoma not just cell by cell, but in the exact place those cells live inside the tumor?

That is the promise of spatial biology. In this episode of DNA Today, we explore how emerging genomic technologies are transforming melanoma research by allowing scientists to examine not only which cells are present in a tumor, but where they are located, how they interact, and why those relationships matter.

May is Melanoma Awareness Month, making this an important time to spotlight how tools like spatial transcriptomics, single-cell sequencing, and multiomics approaches are helping researchers better understand tumor behavior, immune response, and treatment resistance.

Joining us are Professors Thomas Tüting and Andreas Braun, German dermatologists and researchers whose work focuses on melanoma, tumor immunology, and translational cancer research. We are also joined by Dr. Jia Hui Khoo, Product Manager at MGI, who brings expertise in spatial biology and the technologies helping make this research possible.

Together, we discuss an exciting melanoma research project profiling human melanoma samples from the University Hospital Magdeburg’s biobank, using MGI’s DCSP approach, which spans DNA, cell omics, spatial omics, and proteomics. This work has the potential to deepen our understanding of melanoma biology, tumor heterogeneity, immune landscapes, and the future of precision oncology.

In this Episode, We Discuss:

• How melanoma research and treatment have evolved, especially with the rise of immunology and immunotherapy.
• Why human melanoma biobanks are so valuable for translational cancer research.
• How spatial biology helps researchers understand tumors in context, not just as isolated cells.
• Why the location of cells within a tumor matters for understanding melanoma progression and immune response.
• How spatial transcriptomics and single-cell sequencing can reveal differences between patients who respond well to immunotherapy and those who do not.
• What researchers hope to learn by profiling STOmics spatial transcriptomics datasets alongside matched single-cell datasets from human melanoma and mouse models.
• How MGI’s DNBSEQ and STOmics technologies support oncology research.
• What MGI’s DCSP approach brings to melanoma research by integrating DNA, cell omics, spatial omics, and proteomics.
• Why high-resolution spatial technologies like Stereo-seq may be especially important for studying the tumor microenvironment.
• How multiomics research could eventually inform biomarker discovery, patient stratification, therapeutic development, and the future of human pathology.

Guests: 

Professor Thomas Tüting, MD is Professor and Chairman of Dermatology at University Hospital Magdeburg in Germany, where his work focuses on tumor immunology, melanoma progression, metastasis, and resistance to cancer immunotherapy. He trained in dermatology at University Hospital Mainz and completed research training in experimental tumor immunology at the University of Pittsburgh. His research has explored how the immune system shapes melanoma biology, including the role of inflammation, tumor plasticity, and the tumor microenvironment in cancer progression and treatment response. In 2024, Professor Tüting was awarded an ERC Synergy Grant with collaborators at Uppsala University to advance immunotherapy research for malignant melanoma and brain tumors, with a focus on the vascular-immune interface and local anti-tumor immune activation. 

Professor Andreas D. Braun, MD is a dermatologist and researcher in the Department of Dermatology, Allergology and Venereology at the University Hospital Schlewsig-Holstein in Lübeck. His research centers on melanoma biology, tumor progression, metastatic spread, and mechanisms that influence response or resistance to immunotherapy. Professor Braun has co-authored studies on topics including Hgf-Met and BRAF signaling in melanoma, tumor-intrinsic Toll-like receptor 4 signaling, MHC-I downregulation, CD8+ T-cell infiltration, and metastatic spread in melanoma. His work bridges clinical dermatology and translational cancer research, with a focus on using molecular and immunologic insights to better understand melanoma behavior and treatment response.

Dr. Jia Hui Khoo specializes in spatial biology and single-cell technologies. She leads the DCS portfolio at MGI EU&AF, advancing the adoption of spatial biology solutions. DCS represents MGI’s three core technology areas: DNA genomics, cell omics, and spatial omics. She began her work at MGI by leading collaborations using Stereo-seq with research institutions across Europe and now drives product strategy for the company’s spatial multi-omics portfolio. 

Resources & Links

MGI’s Stereo-seq Technology 

MGI’s Spatial Temporal Omics

MGI Tech and NUS Pharmacy and Pharmaceutical Sciences Collaborate on Multi-Omics DCS Lab

Researchers from Uppsala and Magdeburg obtain an ERC Synergy Grant to advance cancer immunotherapy 

Relevant DNA Today Podcast Episode:

#392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism

#383 Inside the Brazilian Rare Genomes Project

#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Newborn sequencing is no longer just a future-facing idea discussed in genetics circles. It is beginning to take shape through real pilot programs, state policy, and health system efforts exploring how genomics could fit into routine newborn care.

In this episode of DNA Today, we take a closer look at one example of that momentum: Florida’s Sunshine Genetics Act. The legislation created a five-year, voluntary newborn genetic sequencing pilot program and established the Sunshine Genetics Consortium. The program allows parents to opt in to newborn genetic screening, including whole genome sequencing. The state allocated millions for the Sunshine Genetics Pilot Program, along with additional funding for the Florida Institute for Pediatric Rare Diseases.

To unpack what this could mean for rare disease diagnosis, pediatric genomic medicine, and the future of newborn screening, our host Kira Dineen is joined by Dr. Pradeep Bhide, Director of the Florida Institute for Pediatric Rare Diseases, and State Representative Adam Anderson, who championed the legislation after losing his son Andrew to Tay-Sachs disease at age 4. 

About Our Guests

Dr. Pradeep G. Bhide is the Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience, Director of the Florida Institute for Pediatric Rare Diseases, and Director of the Center for Brain Repair at the Florida State University College of Medicine. His work focuses on developmental neuroscience, pediatric rare disease research, precision diagnostics, and advancing treatments for children and families affected by rare genetic conditions.

Representative Adam Anderson represents District 57 in the Florida House of Representatives. He sponsored and championed the Sunshine Genetics Act, drawing from his family’s personal experience with rare disease after the loss of his son Andrew to Tay-Sachs disease. Through this legislation, Representative Anderson has helped position Florida as one of the first states to explore how genomic sequencing could be integrated into newborn screening and pediatric rare disease care. 

In This Episode, We Discuss:

• How Representative Anderson’s son Andrew inspired his advocacy for newborn sequencing and rare disease legislation
• What the Sunshine Genetics Act makes possible for families in Florida
• How newborn genome sequencing could shorten or prevent the rare disease diagnostic odyssey
• The role of the Sunshine Genetics Consortium in coordinating researchers, clinicians, geneticists, children’s hospitals, and biotech innovators across the state
• Why early genomic diagnosis can influence medical management, specialist referrals, surveillance, treatment planning, and access to clinical trials
• How Florida’s approach fits into the broader global movement toward newborn sequencing, alongside programs such as Genomics England’s Generation Study, GUARDIAN in New York, BeginNGS at Rady Children’s, and NIH-funded BEACONS
• What “whole genome sequencing” means in the context of this pilot, and how programs may distinguish between sequencing the whole genome and analyzing a targeted set of genes
• How families may be educated about voluntary participation and informed consent
• What types of results may be returned to parents and healthcare practitioners
• How programs are thinking about childhood-onset, treatable, preventable, and potentially adult-onset findings
• The connection between earlier diagnosis and emerging gene-based therapies
• What it takes to move complex genomic medicine legislation forward
• How Florida is building infrastructure for pediatric genomic medicine
• Which outcomes will matter most as the five-year pilot unfolds, including enrollment, sequencing metrics, clinical impact, public health impact, cost effectiveness, and economic benefits, which are included in the reporting requirements for the program. 

Why This Conversation Matters

For many families affected by rare disease, the search for a diagnosis can take years. Those years can include specialist visits, inconclusive testing, missed opportunities for early intervention, and emotional strain. Newborn sequencing raises the possibility of identifying certain serious genetic conditions before symptoms appear, allowing families and clinicians to act sooner.

At the same time, implementing newborn sequencing brings important questions: What conditions should be included? What results should be returned? How should parents be consented? How will privacy and data use be handled? What infrastructure is needed to support follow-up care? And how can programs ensure equitable access?

 

Relevant Resources: 

• “Florida surges to forefront of rare disease research with boost from Sunshine Genetics Act” via Florida State University News
• “Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes
• The Florida Institute for Pediatric Rare Diseases; the Sunshine Genetics Pilot Program; the Sunshine Genetics Consortium
• The International Consortium on Newborn Sequencing (ICoNS)
• Florida Institute for Pediatric Rare Diseases at FSU
• Genomic England’s Generation Study
• Columbia and New York Presbyterian’s The GUARDIAN study 
• Rady Children’s Institute for Genomic Medicine’s BeginNGS®
• Building Evidence and Collaboration for GenOmics (BEACONS) in Nationwide Newborn Screening project via the NIH 

Relevant DNA Today Podcast Episode:

#172 PhenoTips: Advances in Rare Disease Diagnosis with Dr. Stephen Kingsmore

#281 Tay-Sachs with Dr. Matthew Goldstein of JScreen

#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families.

Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies.

In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families.

Topics Covered: 

• The growing role of whole genome sequencing in rare disease diagnosis
• How healthcare systems and clinical practices are adopting genome sequencing
• How whole genome sequencing is changing pediatric patient care
• Why some patients remain undiagnosed after initial WGS testing
• The current diagnostic gap in rare disease genetics
• Efforts underway to improve diagnostic yield
• What a multimodal and multi-omic approach looks like in practice
• How optical genome mapping and long-read sequencing complement WGS
• How labs determine when to layer on additional technologies
• The real-world impact of a confirmed diagnosis on treatment and trial access

About Dr. Christine Eng:

Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients.

About Chris Sands:

Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients.

Relevant Resources: 

• Learn more about Baylor Genetics here
• Baylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental Technologies
• Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases
• AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
• Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays
• Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”
• Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.
• Undiagnosed Disease Network

 

Relevant DNA Today Podcast Episode:

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections 

#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

#376 Why Females with Fabry Disease Aren’t “Just Carriers”

 

Connect With Us: 

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What if one of the biggest assumptions in genetics is also one of the most incomplete? We often talk about DNA as though it is a stable blueprint, a fixed set of instructions inherited at conception and carried unchanged throughout life. 

But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and biologically creative than most of us realize. 

In this episode, Roxanne Khamsi dives into the science and implications of mutations that arise after conception, the spontaneous, somatic, and mosaic genetic changes that shape our tissues, immune systems, brains, aging process, and risk for disease. 

We talk about how these changes complicate the idea of inherited disease, how cancer can be understood through evolution, why some mutations are harmful while others may actually rescue disease, and what all of this means for the future of medicine. 

In This Episode, We Discuss:

• Why DNA should not be viewed as static
• What somatic mutations are and why they matter
• The concept of mosaicism and what it means that every human is a mosaic
• How Darwinian evolution can happen within the body
• How mutation supports antibody diversity and immune defense
• Clonal hematopoiesis and its links to cardiovascular disease and aging
• Phenocopies and how spontaneous mutations can mimic inherited disease
• Cases where cells appear to self-correct through additional mutations
• Whether mutation accumulation may help drive aspects of aging

 

The Guest:

Roxanne Khamsi is an author, speaker, contributing writer for The Atlantic, and award-winning science journalist whose work has appeared in The New York Times, Nature, Scientific American, WIRED, and National Geographic. In Beyond Inheritance, she draws on more than two decades of reporting at the intersection of genetics and medicine to take readers through cancer biology, immune diversity, clonal hematopoiesis, somatic mosaicism, germline mutation, aging, and even microbial evolution, revealing mutation not as an occasional error, but as a constant force shaping life from within. Learn more on her website here.

 

Genetic Conditions Mentioned:

• Progeria
• Werner syndrome 
• Hyper IgM syndromes
• Adenosine deaminase severe combined immune deficiency (ADA-SCID)
• VEXAS syndrome 
• ​​Paroxysmal nocturnal hemoglobinuria (PNH) 
• Duchenne muscular dystrophy (DMD)

Genetic History Timeline Referenced:

• 1881 - "Der Kampf der Theile im Organismus" (The Struggle of the Parts in the Organism) is published by Wilhelm Roux and read by Charles Darwin 
• 1916 - Ernest Tyzzer  first used the term ‘somatic mutation’ with respect to a tumour
• 1953 - Rosalind Franklin's Photo 51 led to the discovery of the structure of DNA by James Watson and Francis Crick 
• 1970s - The foundational X-inactivation studies in Paroxysmal Nocturnal Hemoglobinuria (PNH), notably the work by Oni, Osunkoya, and Luzzatto provided crucial evidence that PNH is a clonal disease arising from a somatic mutation in a hematopoietic stem cell
• 2003 - First draft of the human genome is announced complete.  

 

Relevant Papers:

• Early somatic mosaicism is a rare cause of long-QT syndrome
• Variations have been identified in up to 20% of all cases of autism, with a single mutation in a single gene being largely responsible for driving critical neurodevelopmental differences. 
• The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis 
• How Symptoms of Rare Diseases Can Mimic Common Conditions states rare disease patients average two to three misdiagnoses before their accurate diagnosis. 
• Trisomy rescue 

 

Science Fiction Recommendations - Genetics Edition

• Kira’s Favorite - Orphan Black
• Roxanne’s Favorite - Gattaca

Relevant DNA Today Podcast Episode:

#110 Gattaca, 22 Years Later

#134 Dr. Kat Arney on Cancer Evolution

#202 Duchenne Muscular Dystrophy (DMD) with Ann Martin and Madhuri Hegde

#250 Orphan Black: The Next Chapter with Madeline Ashby

#297 Ambry Genetics Exome Reanalysis with Dr. Elizabeth Chao and Kelly Hagman

#306 NIH’s Dr. Francis Collins on the Human Genome Project, and the Future of Genetics

#351 Mock Cardiac Genetic Counseling Session (Long QT Syndrome)

#365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Kidney disease affects more than 1 in 7 adults in the United States, yet many people do not realize they are at risk until symptoms become serious. For some patients, kidney disease is tied to rare or genetic causes, making diagnosis and treatment even more complex.

In this episode of DNA Today, we explore focal segmental glomerulosclerosis (FSGS), APOL1-mediated kidney disease (AMKD), and the real-life impact of navigating a rare kidney disease diagnosis as a young adult.

Joining the show is Emani McConnell-Brent, who shares her personal experience living with FSGS, from early symptoms and delayed diagnosis to the emotional toll of learning her kidney disease is genetic.

Also featured is Dr. Pranav Garimella, Chief Medical Officer at the American Kidney Fund, who explains the science behind FSGS, when genetic testing for conditions such as AMKD should be considered, and why earlier recognition of kidney disease symptoms can make such a meaningful difference.

Together, they discuss the importance of listening to patients, not dismissing early warning signs like protein in the urine, and improving access to genetic evaluation for people with unexplained kidney disease or a family history of kidney problems.

Emani also opens up about how kidney disease changed her daily life, from monitoring her blood pressure and swelling to adjusting her plans, energy, and expectations as a young adult. Her story is a powerful reminder that earlier diagnosis does not just impact medical management,  it can also shape a person’s mental health, future planning, and sense of control.

The episode also highlights the work of the American Kidney Fund, including its mission to support people living with kidney disease through education, advocacy, prevention, and resources for both patients and healthcare providers.

In This Episode, We Discuss:

• What focal segmental glomerulosclerosis (FSGS) is
• How FSGS affects kidney function
• Emani McConnell-Brent’s journey to diagnosis
• The role of APOL1 genetic risk variants in kidney disease
• Why persistent protein in the urine should not be overlooked
• When genetic testing may be appropriate in kidney disease evaluation
• The mental health and lifestyle impact of chronic kidney disease in young adults
• How the American Kidney Fund supports patients, families, and providers

About the Guests

Emani McConnell-Brent is a full-time student at Bowie State University majoring in psychology. She is an advocate for kidney health and mental health. Despite Emani’s diagnosis of focal segmental glomerulosclerosis (FSGS) in 2020, she has invariably displayed ambition, resilience and transparency. She refuses to allow her diagnosis or any lifelong outcomes to dictate her success. Instead, she views her diagnosis as an opportunity for advocacy and education. Emani has since devoted her platform to telling her story and to bringing awareness to APOL1-mediated kidney disease and health disparities among African Americans. 

 

Dr. Pranav Garimella, MBBS, MPH, FASN, joined the American Kidney Fund as its first Chief Medical Officer in January 2025. A board-certified nephrologist and nationally recognized leader in rare kidney diseases, he also serves at UC San Diego Health as Director of Acute Dialysis Services and the Polycystic Kidney Disease Center of Excellence. Dr. Garimella is an accomplished researcher focused on kidney function, cardiovascular disease, bone health, and mortality, with NIH-funded work and more than 110 peer-reviewed publications. He is also a trained epidemiologist, frequent journal reviewer, and fellow of the American Society of Nephrology. 

Resources Mentioned:

• American Kidney Fund (AFK) 
• AKF's Unknown Causes of Kidney Disease Project
• AKF’s Continuing education opportunities 
• AKF’s Explanation of APOL1-mediated kidney disease (AMKD) 
• Emani McConnell-Brent’s Instagram and LinkedIn advocacy 
• MedlinePlus’ Page on focal segmental glomerulosclerosis (FSGS)

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

In this special episode of DNA Today, Kira Dineen sits down with Mayte Garcia — artist, author, internationally acclaimed dancer, actress, singer, choreographer, philanthropist, and the former wife of Prince — for a deeply personal conversation about love, loss, legacy, and the rare genetic condition Pfeiffer syndrome type 2.

You may know Prince as one of the most influential musicians of all time, but in this episode, we step beyond the public image and into a far more intimate story: Prince and Mayte as expectant parents, the profound love they shared for their son Amiir, and the devastating medical journey that followed after his birth.

Mayte reflects on pregnancy, the bond she and Prince formed with Amiir before he was born, the difficult decisions they faced, and what it meant to navigate a rare diagnosis in the 1990s before information was as accessible as it is today. 

Kira also provides helpful context on Pfeiffer syndrome, including its genetics, symptoms, and why Amiir’s diagnosis of the severe type 2 form carried such serious medical challenges.

This conversation also explores grief — both private and public — as Mayte shares what it was like to mourn Amiir while under the intense pressure of public life. She offers moving insight for parents who feel pressure to hide their pain, and reflects on how writing her memoir, The Most Beautiful: My Life with Prince, became part of her healing.

The episode closes on legacy: not only Prince’s legacy as a global music icon, but his humanitarian spirit and the work that continues through Live 4 Love Charities, the nonprofit founded in memory of Amiir and rooted in Prince’s philanthropic vision.

This month marks 10 years since Prince passed away, and also 30 years since their son Amiir died. Mayte is honoring them both through a special Live 4 Love Charities Glam Slam Benefit in Los Angeles on April 21st, 2026.

We Discuss:

• Prince and Mayte’s bond with Amiir during pregnancy
• Why they declined amniocentesis during the pregnancy
• What Pfeiffer syndrome type 2 is and how it differs from other forms
• The genetics of Pfeiffer syndrome, including FGFR2 and de novo variants
• The medical complexity of Amiir’s care after birth
• Prince as a father behind the public persona
• Grief, public image, and the pressure to “perform” wellness
• Mayte’s memoir and why she chose to tell this story
• The legacy of Amiir
• Prince’s humanitarian legacy beyond music
• Mayte’s leadership of Live 4 Love Charities
• The upcoming Glam Slam Benefit on April 21st honoring Prince’s life and impact

About Mayte Garcia

Mayte Garcia is a Puerto Rican dancer, choreographer, actress, singer, author, and philanthropist. A professional belly dancer since age three, she became internationally known as Prince’s muse, collaborator, featured dancer for the New Power Generation, and later his first wife. She is the author of the memoir The Most Beautiful: My Life with Prince.

Mayte has appeared in numerous film and television projects, including Hollywood Exes, Army Wives, Psych, The Closer, and Nip/Tuck. She now leads Live 4 Love Charities, continuing a mission rooted in compassion, service, creative empowerment, and honoring the legacy of both Prince and their son, Amiir, who died from a genetic condition called Pfeiffer Syndrome. 

Resources & Links

• • Mayte Garcia’s memoir: The Most Beautiful: My Life with Prince
  • Live 4 Love Charities
    • Love In Action Program
    • Stillborn And Infant Loss Support (S.A.I.L.S.), receipt of a $10,000 donation from the Love in Action Program. You can watch Mayte Garcia call the program to break the good news here. 
    • Live 4 Music Program
    • Live for Dance Program 
  • Glam Slam Benefit Tickets

• Pfeiffer Syndrome:

• MedlinePlus’ Page 

• • NORD Page
  • Born A Hero, Research Foundation for all FGFR conditions 

 

Relevant DNA Today Podcast Episode:

#281 Tay-Sachs with Dr. Matthew Goldstein (regarding his late daughter Havi)

#315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally (regarding Dr. Leibman’s late niece) 

 

Upcoming Live 4 Love Charities Event on April 21st

On April 21, 2026, Live 4 Love Charities will host its Glam Slam Benefit at the W Hollywood, an evening dedicated to celebrating Prince’s lasting cultural and philanthropic legacy.

The event will feature performances by Paisley Park alumni, joined by the Mpls All Star Band made up of former Paisley Park musicians, with additional special guests including Taylor Dayne, Sheila E, and more to be announced.

Now led by Mayte Garcia, Live 4 Love Charities continues the mission Prince began: uplifting communities through compassion, creative empowerment, youth development, arts education, and healing. Through programs like Live 4 Dance and Live 4 Music, the organization helps mentor and empower the next generation of young artists.

You can get tickets for their Grand Slam Benefit here. 

Learn more about the charity and the Glam Slam Benefit here: https://live4lovecharities.org/

 

Connect With Us: 

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Danon disease is a rare, X-linked metabolic disorder that strikes at the heart of cellular function. Caused by mutations in the LAMP2 gene, it disrupts the body’s ability to clear cellular waste (autophagy), leading to devastating and often life-threatening cardiac complications. Because the disease is so rare, understanding its natural progression, and how to stop it, is the current "North Star" for researchers and clinicians alike.

In this episode, we are joined by two world-renowned experts to discuss the current landscape of Danon disease research: Dr. Barry Greenberg and Dr. Cordula Wolf. We dive deep into the mechanics of the disease, the importance of the LAMPLIGHT-NH observational study, and the groundbreaking LAMPLIGHT-2 interventional gene therapy trial.

Meet the Experts

• Dr. Barry Greenberg (US): A pioneer in heart failure research and Director of the Advanced Heart Failure Program at UC San Diego.
• Dr. Cordula Wolf (Germany): A leading expert in pediatric cardiology and congenital heart defects, specializing in the clinical management of metabolic cardiomyopathies.

Understanding the Disease Course

Danon disease is fundamentally a "traffic jam" at the cellular level. Without a functional LAMP2 gene, lysosomes cannot fuse with autophagosomes, leading to a buildup of cellular debris.

• The Impact: This manifests primarily as hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability.
• The Cardiac Threat: For many patients, especially males, the disease progresses rapidly toward end-stage heart failure or sudden cardiac death, often requiring heart transplants at a young age.

Resources & Clinical Trial Links

If you are treating a patient with a confirmed or suspected LAMP2 pathogenic variant, your referral to a study site can change the trajectory of their care.

• Observational (LAMPLIGHT-NH)
  • Best for gathering data without changing current management.
  • Natural History Study (LAMPLIGHT-NH): ClinicalTrials.gov NCT06214507
• Interventional (LAMPLIGHT-2)
  • A Phase 2 trial for those meeting specific cardiac and age requirements.
  • Interventional Study (RP-A501): ClinicalTrials.gov NCT06092034

• Official Study Website: LAMPLIGHT Studies

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis. 

Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condition, from the initial struggles of seeking a diagnosis for their brother, Antonn, to the cutting-edge gene therapy research currently underway.

 

Inside This Episode:

The Diagnostic Odyssey Faith and Dan share the emotional impact of living with Sialidosis and the long road to a definitive diagnosis. We explore the uncertainty that many rare disease families face and how receiving an answer after years of "red flags" reshaped their lives.

Understanding Sialidosis (The Science) We break down the clinical and cellular mechanics of Sialidosis. We discuss:

• The role of the NEU1 gene and how mutations lead to cellular dysfunction.
• The two primary forms of the condition (Type I and Type II) and their clinical presentations.
• Why Sialidosis is frequently misdiagnosed or overlooked by clinicians.

Daily Life & Advocacy What does it look like to manage a rare condition day-to-day? Faith offers a candid look at the balance between medical management and the psychosocial burden on patients and siblings. Dan discusses how his personal and familial connection fueled the mission of Cure Sialidosis.

The Future of Treatment: Gene Therapy We look toward the horizon of rare disease research. Sialidosis is currently entering the pre-clinical gene therapy stage, where the goal is to correct the NEU1 gene. Dan provides an update on the status of enzyme replacement and the global drive to raise funds for manufacturing the treatments required for human trials scheduled for 2026.

 

About Our Guests:

Dan Peach is a founding member of Cure Sialidosis and a board member of Cure Mucolipidosis. As one of five siblings, three of whom were affected by Sialidosis, his connection to the disorder is profound. Since helping facilitate the diagnosis of his brother Antonn and sister Faith, Dan has become a dedicated patient-researcher. He leads a global community of patients, clinicians, and researchers, collaborating worldwide to address the root causes of the disease and improve outcomes for all affected.

Faith Sinclair is a patient advocate living with Sialidosis, and sister to Dan. Her journey from years of medical uncertainty to a definitive diagnosis has made her a vital voice in the rare disease space, dedicated to sharing the unique perspectives of patients and their families.  

 

Relevant Resources: 

CureSialidosis.org

Kiwi siblings battling rare genetic condition

Sialidosis therapy: Kiwi siblings fundraise for injection against disease that killed brother - NZ Herald 

 

More Lysosomal Storage Disorder Episodes on DNA Today:

#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I

#376 Why Females with Fabry Disease Aren’t “Just Carriers” 

#372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy

#292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research)

#281 Tay-Sachs with Dr. Matthew Goldstein

#171 Farber Disease with Aceragen 

 

Connect With Us: 

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape.

Shoutout to the lead organizer Anthony Zuo for putting this conference together. 

 

The Panel (in order of appearance) 

 

David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency.

 

Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome. 

 

Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful. 

 

Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast.

 

Topics Discussed  The Burden of Expertise

A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer.

Navigating the Emergency Room

David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort.

The Battle with Insurance and Systems

Kate shares a heartbreaking story of "Systemic Trauma":

• The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch.
• The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier."

The Power of Community and Storytelling

Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change.

 

Relevant Resources: 

• • Jill Gassman Zullo’s book Brokenly Beautiful

• Jonathan Cappiello’s podcast 1 of 20 podcast

• Kate Tokarski’s poem I Was 'That Mom' 
• National Organization for Rare Disorders (NORD)
• Undiagnosed Disease Network (UDN)
• Genetic and Rare Diseases Information Center (GARD)

 

Relevant Rare Disease Patient Advocacy Stories on DNA Today:

#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency

Connect With Us:  

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care.

This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties.

Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care.

In This Episode, We Discuss

• Building a Medical Home
  • What a “medical home” means for children with achondroplasia
  • Common concerns families raise after a new diagnosis, beyond height
  • Supporting families early while planning for long-term care
• Co-Morbidities & Clinical Complications
  • Key conditions clinicians should monitor in infants and children, including:
    • Foramen magnum stenosis
    • Hydrocephalus
    • Sleep apnea
    • ENT issues like recurrent ear infections and hearing loss
  • Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs
  • How chronic pain presents and is managed across childhood and adulthood
• Living With Achondroplasia
  • How medical needs evolve from childhood into adolescence and adulthood
  • The role of fatigue, mobility limitations, and accessibility in daily life
  • Balancing medical care with childhood independence and normalcy
  • Under-recognized burdens that significantly affect patients and families
• Multidisciplinary Care in Practice
  • What a full skeletal dysplasia care team looks like
  • How palliative care supports symptom management, decision-making, and quality of life
  • Coordinating care across specialties like orthopedics, neurosurgery, ENT, and audiology
  • Preventing communication breakdowns between providers
  • Helping families navigate complex choices around interventions and surgeries
• Looking Ahead
  • Gaps in current care models for achondroplasia
  • How emerging treatments are changing long-term planning conversations
  • Key takeaways for providers who may only occasionally care for patients with achondroplasia

 

Our Guest Dr. Ricki Carroll:

Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee.

 

Achondroplasia Resources: 

• Little People of America (LPA) 
• Dwarf Athletic Association of America (DAAA) 
• International Achondroplasia Forum 
• Achondroplasia GeneReviews 
• Achondroplasia Growth Charts
• Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. 
• Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010
• Nadia Merchant, Julie Hoover-Fong, Ricki S Carroll, Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 7, July 2025, Pages e2309–e2316, https://doi.org/10.1210/clinem/dgaf017 

 

Relevant Skeletal Dysplasia DNA Today Episodes: 

• #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer 

• #301 Dwarfism with Colleen Gioffreda 

• • #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders) 

• #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains (Biomarin’s Sponsored Series First Installment)

 

Be on the lookout for our third and final episode in this series about achondroplasia sponsored by BioMarin. 

 

Connect With Us:

Luckily, you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! 

 

We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing.

 

Our episode is broken into three segments…

 

• Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands
• Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro
• Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger 

 

Relevant Resources: 

 

Baylor Genetics Segment Resources: 

• Baylor Genetics Announces Enhanced Whole Genome Sequencing Test
• Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies 
• AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay

 

Illumina Segment Resources: 

• Genomewide Sequencing Ontario Project 
• Illumina’s Emedgene variant interpretation software 
• Illumina’s Grand Rounds in Genomic Medicine 
• Genome Aggregation Database (gnomAD) 

 

Ambry Genetics Segment Resources: 

• Ambry Genetics’ Patient for Life website and white paper
• Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield 
• Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics 
• Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access”

 

Relevant DNA Today Podcast Episode:

#182 Eric Green on the Complete Human Genome Project

#231 ChatGPT and AI In Genetics with Daniel Uribe

#285 AI To Enhance Variant Curation with Daniel Uribe

#297 Exome Reanalysis with Ambry Genetics

#303 RNA Analysis with Ambry Genetics

#325 Revolutionizing Variant Curation with MAVEs

#334 ACMG 2025 Recap

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections

#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

 

Upcoming Conferences:

In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026…

• Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego 
• Podcast Movement in September in New York City 
• American Society of Human Genetics (ASHG) in October in Montreal
• National Society of Genetic Counselors (NSGC) in November in Baltimore  

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics.

While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases.

Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients.

Topics Covered in This Episode:

• RNAseq 101: What RNA sequencing is and how it complements DNA sequencing.
• Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss.
• Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care.
• Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq.
• Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant?
• Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time.
• When Results Are Inconclusive: How to handle unexpected or unclear RNA findings.
• Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice.
• Implementation Barriers: Challenges to scaling multi-omic testing in routine labs.
• Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade.

Resources & Links:

• Learn more about Baylor Genetics here
• Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases
• AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
• Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays
• Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”
• Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.
• Undiagnosed Disease Network

 

Relevant DNA Today Podcast Episode:

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections

 

Connect With Us: 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

 

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey.

 

In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades.

 

Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries.

 

Together, we discuss:

• How rare disease care in Brazil compares to the U.S.
• Why whole genome sequencing is a game changer for undiagnosed patients
• Lessons learned from national-scale genomics initiatives
• The role of public–private partnerships in sustaining innovation
• What the future holds for rare disease diagnostics worldwide

Relevant Resources: 

• MGI Tech
• MGI’s Sequencing Platforms 
• NeoGenomica
• NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses.
• 100,000 Genomes Project by Genomics England
• Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582
• Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312; PMCID: PMC11350637.

 

Relevant DNA Today Podcast Episode:

#285 AI To Enhance Variant Curation with Daniel Uribe

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI 

#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI

 

Connect With Us: 

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab. 

 

This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only.

 

To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link!  Don’t miss all the episodes this season! 

 

In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster? 

 

Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only.

 

 

Episode Discussion Topics:

• The importance of clear definitions: functional vs. complete cures
• Why developing universal medical cures is incredibly complex 
• The role of clinical trials in developing potential medical cures
• How AbbVie’s Pathway to Cures program fosters collaboration and innovation
• The transformative impact of precision medicine and reverse translation
• How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies
• The emotional and practical significance of potential medical cures for patients and scientists

Relevant Resources: 

• Listen to The Persistence Lab
• AbbVie: Pathway to Cures
• AbbVie: Can We Find Cures Faster Article
• AbbVie: AI & Data Convergence

 

Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!  

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution.

In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever. 

Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms.

This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined.

Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations.

The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world.

 

Topics Discussed In This Episode:

• An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species
• Exploration of natural selection and Darwin’s enduring influence on modern biology
• How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories
• The role of horizontal gene transfer in microbial evolution and its significance
• Highlights from Connecticut’s 2026 Darwin Day celebration
• Charles Darwin’s “entangled bank” and its relevance today
• What Darwin got right—and what modern science has updated
• Natural selection at the gene level vs. organism level
• Why evolution isn’t always gradual: rapid change and hybridization
• Horizontal vs. vertical gene transfer explained
• How viruses, bacteria, and other mechanisms move genes across species
• The role of horizontal gene transfer in microbial evolution
• Real-world implications for medicine, antibiotic resistance, and biotechnology
• How curiosity and early inspiration shape scientific careers
• The importance of science communication and public engagement

 

About Our Guest: Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering.

 

About the Event: This episode was recorded live at HFFC's 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth. 

Please join us at next year’s event which will be held in February 2027 in Connecticut. Stay tuned for more details through the show, or directly on the Connecticut Darwin Day website. 

 

Relevant Resources: 

• Gogarten Lab at The University of Connecticut
• Dr. Johann Peter Gogarten’s LinkedIn Page
• “Charles Darwin: History’s Most Famous Biologist” via Natural History Museum 
• International Darwin Day Foundation 
• The Connecticut Darwin Day website
• Event Host: Humanists and Freethinkers of Fairfield County (HFFC) in Connecticut
• HFFC’s Podcast, Humanism Today

Relevant DNA Today Podcast Episode:

• #100 Carl Zimmer on Human Heredity 
• #134 Dr. Kat Arney on Cancer Evolution
• #335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution

Gene Pool Media: The Science Podcast Network:

DNA Today and Humanism Today are shows on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

• Humanism Today RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• All Access DNA
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series 
• Parálisis Cerebral Respuestas
• Gods and Genes
• Rare Rebels

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels. 

 

The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change.

 

The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work. 

 

In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives. 

 

In This Episode: 

 

• Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I
• Being told “nothing can be done” and choosing to challenge that narrative
• Navigating rare disease advocacy before the internet, social media, or established drug development pathways
• Teaching himself medical and scientific concepts without formal training
• Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach
• Building a nonprofit organization from the ground up to support research and families
• The fragmented healthcare and research system rare disease families faced in the 1990s
• The critical role of relationships in advancing rare disease research
• Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress
• Bridging families, clinicians, and researchers to accelerate treatment development
• The path to developing the first treatment for MPS I
• How one family’s advocacy changed outcomes for future patients
• Parents as drivers of innovation in rare disease
• Persistence, collaboration, and problem-solving in the absence of clear systems
• Enduring lessons for today’s rare disease community and advocates

 

Gene Pool Media: The Science Podcast Network:

Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

• RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• All Access DNA
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series 
• Parálisis Cerebral Respuestas
• Humanism Today
• Gods and Genes

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

Relevant Resources: 

Rare Rebels Website

Rare Rebels on Spotify

Rare Rebels on Apple Podcasts 

MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page

Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page

Gene Reviews’ Mucopolysaccharidosis Type I Page

Dr. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I

The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)

National Organization For Rare Disorders (NORD)

EveryLife Foundation For Rare Diseases

Relevant DNA Today Podcast Episode:

#171 Farber Disease with Aceragen (also a lysosomal storage disorder) 

#292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research)

#372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

#376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder) 

#378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact.

In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation.

Joining us from Portugal is Dr. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use.

Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality.

In This Episode, We Discuss Setting the Stage: IPATIMUP’s Role in Oncology

• How IPATIMUP fits into Europe’s oncology landscape
• Why a research-driven approach is central to its diagnostic mission

From Research to Routine Diagnostics

• Translating research findings into clinical workflows
• Balancing innovation with responsibility in patient-facing diagnostics

Choosing the Right Technology Partner

• Why IPATIMUP selected MGI sequencing platforms
• What differentiates MGI’s technology in oncology applications
• The importance of flexibility across DNA and RNA testing
• Why long-term technical collaboration matters beyond installation

Large Gene Panels in Clinical Practice

• How Gene+ selected the 1,021 genes included in its oncology panel
• Real-world experience using large DNA and RNA panels in routine diagnostics
• Why the Gene+ panel pairs effectively with MGI’s sequencing platforms
• What it takes to move from validation to clinical implementation

RNA Sequencing as a Diagnostic Advantage

• How RNA sequencing complements DNA-based testing in oncology
• When RNA sequencing provides the most clinical value
• How RNA data can increase diagnostic confidence in complex cases

Automation, Scale, and Quality

• Why automation is essential for high-throughput oncology labs
• Reducing hands-on time and minimizing human error
• Practical advice for labs looking to scale while maintaining consistency and quality

 

Relevant Resources: 

• IPATIMUP
• MGI Tech
• MGI’s Sequencing Platforms 
• Gene+ (Website currently under construction)

 

Relevant DNA Today Podcast Episode:

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

February 3rd, 2026 Update:

The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President signs it).

 

January 30th, 2026 Update:

Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government. The next step for the bill is to go back the U.S. House of Representatives for final passage. Urge your representatives to pass this legislation, MDA made it easy to do so here. 

 

January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th. 

Urge your senators to pass this legislation, MDA made it easy to do so here. 

Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you! 

 

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What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment. 

 

We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University.

 

We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it. 

 

In This Episode, We Discuss

What’s Actually Happening With NIH Funding

• Why the phrase “NIH cuts” understates the real-world impact on patients and families
• What proposed reductions for Fiscal Year 2026 could mean for rare disease research
• How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials

Why Rare Disease Research Is Especially at Risk

• Why rare disease programs are more sensitive to funding instability than common conditions
• The difference between slowed progress and permanent loss for progressive neuromuscular diseases
• How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials
• What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge

Neuromuscular Disease Research in 2026

• Where neuromuscular research stands today and what breakthroughs are closest to patients
• Which types of studies are most vulnerable to funding cuts
• How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases

Policy Realities & Misconceptions

• How to explain to policymakers that cutting research now increases long-term healthcare costs later
• Common misconceptions about NIH funding and why rare disease research can’t simply “pause and restart”

Advocacy: What You Can Do Right Now

• The most effective actions for advocates engaging Capitol Hill today
• What makes a patient or family story resonate with lawmakers and staffers
• How collective advocacy protects not just future discoveries, but lives happening right now

Relevant Resources: 

Click here to urge you senators to pass legislation this week to support the NIH (mda.org/supportNIH). The bill now moves to the Senate for consideration the week of January 26th, 2026.  

• MDA Advocacy Landing Page
• MDA Advocacy Action Center
• Donate to MDA
• MDA's X Page
• MDA's Instagram Page
• Request MDA Services 
• We Work For Health 

 

Relevant DNA Today Podcast Episode:

• #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
• #327 How Patient Advocacy is Changing Rare Disease Research
• #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
• #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (including NIH changes with former NHGRI Director Dr. Eric Green)

 

Connect With Us: 

Usually we release new episodes on Friday, but since this was so timely we released it as a bonus episode. You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help?

In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life.

Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next.

We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care.

On This Episode We Discuss:

Aging in Place & Memory Care

• What families are most concerned about when trying to keep a loved one at home
• How memory-related illnesses change caregiving compared to physical limitations alone
• Common misconceptions about the progression of cognitive decline
• What “successful aging in place” realistically looks like

Medication Challenges in Older Adults

• Why polypharmacy is so common—and so risky—in later life
• How medications that once worked well can become problematic over time
• Real-world examples of unexpected medication reactions in individuals with memory changes
• Why older adults are especially vulnerable to side effects, particularly with cognitive impairment

Pharmacogenomics, Explained for Caregivers

• What pharmacogenomics (PGX) is and how to explain it to families in practical terms
• Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated
• How PGX may help prevent medication-related crises before they happen

PGX in Home-Based Memory Care

• How pharmacogenomics could reshape medication decisions for dementia care
• Medication categories that often raise red flags in older adults
• How genetic insights may help protect individuals who can’t clearly report side effects

Advocacy, Access & System Gaps

• Barriers families face when trying to access PGX-informed care
• How caregivers can request medication reviews without feeling confrontational
• Where healthcare systems often fall short of the realities families manage at home

Looking Ahead

• What it would mean to routinely integrate pharmacogenomics into elder care
• Michele’s key message for caregivers navigating medications, memory care, and aging in place

Our Guest: 

Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life. Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true.

She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching.

Relevant Resources: Need Health? 

UChicago News: Women are overmedicated because drug dosage trials are done on men, study finds ClinPGx

Sequence2Script

The PREPARE Study

Table of Pharmacogenomic Biomarkers in Drug Labeling

The Clinical Pharmacogenetics Implementation Consortium (CPIC®)

Relevant Papers:

Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, Guardascione M, D'Andrea M, Favaretto A, Puglisi F, Swen JJ, Guchelaar HJ, Toffoli G, Cecchin E. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA Netw Open. 2024 Dec 2;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: 39641926; PMCID: PMC11624585.

 

van Marum RJ. Underrepresentation of the elderly in clinical trials, time for action. Br J Clin Pharmacol. 2020 Oct;86(10):2014-2016. doi: 10.1111/bcp.14539. Epub 2020 Sep 9. PMID: 32909294; PMCID: PMC7495271.

 

Zucker I, Prendergast BJ. Sex differences in pharmacokinetics predict adverse drug reactions in women. Biol Sex Differ. 2020 Jun 5;11(1):32. doi: 10.1186/s13293-020-00308-5. PMID: 32503637; PMCID: PMC7275616.

Relevant DNA Today Podcast Episode:

#108 Dr. Becky Winslow on Pharmacogenomics

#174 Pharmacogenomics with Fulgent Genetics

#229 Pharmacogenomics with Avni Santani

#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) 

#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (Talked about PGx with chemotherapy) 

Connect With Us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders.

Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families.

We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals. 

Topics Covered in This Episode

• What Fabry disease is and how it affects the body.
• The impact of Fabry’s X-linked inheritance on clinical presentation.
• Why the term “just a carrier” is misleading for females or people with two X chromosomes.
• Variability in disease expression among females and key clinical cases.
• Classic vs. later-onset Fabry phenotypes and diagnostic challenges.
• Common signs and symptoms that often go unrecognized.
• Barriers leading to delayed diagnosis and under-recognition.
• Benefits of early detection and cascade family screening.
• Managing variants of uncertain significance (VUS) in the GLA gene.
• Limits of genotype–phenotype correlations in Fabry disease.
• Psychosocial challenges for families living with a Fabry diagnosis.
• Advice for clinicians and genetic counselors evaluating potential Fabry patients.

Resources & Links

• The brand new website, FindingFabry.com has additional information and resources. 
• Amicus’ website here also has information about Fabry disease. 
• Patients’ stories about living with Fabry disease. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives?

In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine.

We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact:

Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics.

Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified.

Topics Covered In This Episode: 

• The stories behind scientific breakthroughs and what fuels discovery
• How collaboration across disciplines accelerates innovation
• Translating genetic discoveries into real-world therapies
• The role of publishing and open science in driving progress
• How journals are adapting to promote transparency and reproducibility
• Advice for early-career researchers balancing ambition with sustainability
• The evolving landscape of global collaboration in science
• How AI and automation are transforming both research and publishing
• The ethics and equity considerations of AI-driven science
• The importance of representation and global voices in genomics

Key Takeaways

• True innovation thrives on collaboration—across labs, disciplines, and continents.
• Publishing isn’t the end of science; it’s a catalyst for connection and progress. Bridging basic discovery to clinical application requires persistence and shared purpose.
• Transparency, communication, and mentorship are essential to the next wave of breakthroughs.

Relevant Resources: 

• Wiley Advanced Portfolio 
• Wiley’s Journal Finder
• Genetics and Genomics: Advanced Science Collection 
• Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections
• Wiley's AI guidelines for Authors
• Wiley’s ExplanAItions 2025: The evolution of AI in research
• What Makes a Successful Submission Wiley Blog Post
• Eligibility for access to Research4Life 
• Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences
• Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering

 

Relevant DNA Today Podcast Episode:

#337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors

#345 How To Talk About DNA Without Losing People: Strategies Part 1

#350 How To Talk About DNA Without Losing People: Strategies Part 2

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests) 

 

Connect With Us: 

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning? 

To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine. 

Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution.

 

On This Episode, We Discuss:

 

Setting the Stage: Rome’s Personal Journey

• How Rome entered the genetics and diagnostics space shortly after the Human Genome Project
• What motivates his continued work at the intersection of innovation, patients, and access
• Why confidence, curiosity, and communication matter in fast-changing scientific fields

The Early Era: Post–Human Genome Project

• What diagnostics felt like in the early 2000s
• Early pharmacogenomics and predicting chemotherapy response
• Barriers to adoption, including cost, infrastructure, and skepticism

The Growth Era: Expansion of Genetic Testing

• How cancer diagnostics and precision medicine began shaping standard care
• Shifts in how clinicians and patients talked about risk and prevention
• Lessons learned about equity, access, and unmet expectations

The Current Era: Precision Medicine Goes Mainstream

• What distinguishes today’s genetic testing landscape from earlier eras
• Ongoing challenges around affordability, access, and education
• The role of podcasts and science communication in empowering patients

Looking Ahead: The Next Era of Genetic Testing

• What might define the next wave: RNA, epigenomics, microbiome, multi-omics
• Where AI and advanced data analytics fit into future care models
• Why collaboration across pharma, diagnostics, advocacy groups, and patients is essential
• Whether population-wide genetic testing could become routine in the years ahead

 

About the Guest

Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured.

 

Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 TV and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare.

 

Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries.

Relevant Resources: 

• Genetics for Healthcare Podcast Hosted by Rome Madison 
• American Lung Association; EGFR and Lung Cancer 
• Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, Research
• Fierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy sale
• The Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firm
• National Comprehensive Cancer Network Guidelines 
• The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!)

 

Relevant DNA Today Podcast Episode:

• #145 Greenwood Genetic Center on Epigenetics
• #182 Eric Green on the Complete Human Genome Project 
• #358 AGBT Precision Health 2025 Meeting Recaps and Reflections
• #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice
• #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests
• #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
• #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis. 

 

This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

The Actors:

Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today.  

 

Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College. 

 

Mock Session Information:

Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment. 

Case Details:

The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing.

 

Patient Name: Liam Ventura 

Parent Names: Mary and Sam Ventura

 

Medical History:

• Pregnancy:
  • Uncomplicated
  • Full term (39 wks) via NSVD
  • No exposures or complications reported
  • Normal prenatal ultrasounds
• Newborn Screening:
  • Elevated immunoreactive trypsinogen (IRT)
  • Two CFTR variants identified on screening panel
• Development: Appropriate for age
• Growth: Slightly below weight percentile
• Symptoms: Mild cough, parents believe it’s due to the change of weather
• Specialists Seen: Pediatrician only so far
• Medications/Treatments: None currently
• Therapies: None currently

Family History:

• Ancestry: Dad- Irish  Mom- Af. American
• No consanguinity, birth defects, or known genetic conditions
• No history of cystic fibrosis or early infant deaths
• One paternal cousin with male infertility

 

Prior Carrier Results: 

• Dad- F508del Carrier 
• Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T 

 

Pediatric Mock Session Outline

 

Contracting

• Greetings and introductions
• Reason for referral to genetic counseling (positive newborn screening for CF)
• Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?” 

 

• Address patient questions or concerns such as:
  • “What does this mean for our baby?”
  • “Does this mean he has cystic fibrosis?”
  • “Could this happen again in another pregnancy?”
  • “Did we do something to cause this?”

Medical Intake

• Review pregnancy and delivery history
• Review newborn history
• Review of systems with focus on:
  • Respiratory symptoms
  • Digestive symptoms and growth patterns
  • Frequency of infections
• Developmental milestones and any delays noted by parents
• Medications, supplements, or current therapies

 

Family History

• Construct a three-generation pedigree
• Ask about consanguinity, early childhood deaths, chronic respiratory or digestive issues, and male infertility
• Determine if any relatives have known carrier status for CF or other genetic conditions

Patient Education:

Overview of Genetics

• Explanation of autosomal recessive inheritance
• Each parent is likely a carrier of one CFTR gene variant
• With each pregnancy:
  • 25% chance for a child with CF
  • 50% chance to be a carrier
  • 25% chance to be unaffected and not a carrier

Cystic Fibrosis Overview

• Genetic condition that can affect the lungs and digestive system
• Caused by variants in the CFTR gene that affect how mucus and other secretions function
• Range of possible symptoms from mild to more significant depending on variants involved (explain variable expressivity)

Genetic Testing Discussion

• Both parents previously had carrier testing done, dad came back with a variant and mom did not. 
• Testing options: 
  • CFTR gene sequencing and deletion/duplication analysis for mom: c.1675G>A p.A559T variant is found afterwards
• Sample collection: Blood or saliva
• Results:
  • Positive: Confirms CF diagnosis 

Testing Process

• Turnaround time: 2–4 weeks
• Informed consent and shared decision-making

Recommendations and Next Steps

• Proceed with diagnostic testing for Liam
• Offer CFTR gene sequencing to parents
• Coordinate follow-up once results are available, will call once results are available
• Provide educational resources on CF and genetic testing
• Discuss implications for future pregnancies

  Relevant Cystic Fibrosis Genetic DNA Today Episodes:

#147 CF Series: Bijal Trivedi on "Breath From Salt"

#148 CF Series: Shuling Guo on Pharmaceuticals

#149 CF Series: Boomer Esiason’s Son Gunnar on Patient Advocacy

 

Previous installments of our Mock Genetic Counseling Session series:

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

Episode #351: Cardio Session for Sudden Death of A Family Member 

Episode #368: Prenatal Session for Increased Nuchal Transluency 

Disclaimer:

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. 

 

Connect With Us:

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

 

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters?

In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time.

Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition.

Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury.

This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope.

On This Episode, We Discuss:

 

• Understanding Hunter Syndrome (MPS II)
  • What it means to have a metabolic disorder and how MPS II affects the body
  • Common symptoms and how the disease progresses over time
  • The variability in presentation and severity among individuals
• A Family’s Journey Through Hunter Syndrome
  • Kristin’s experiences growing up with a brother affected by Hunter syndrome
  • Losing Zachary and later receiving the diagnosis for her son, Charlie
  • How these experiences shaped her perspective as both a parent and an advocate
• Project Alive: Mission, Growth & Impact
  • The origins and mission of Project Alive
  • Key initiatives supporting research, families, and advocacy
  • How the organization balances funding science, supporting families, and influencing policy
• Gene Therapy & the RGX-121 Delay
  • Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome
  • What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families
  • The emotional and practical impact of regulatory delays in ultra-rare diseases
  • What changes could help expedite review processes for rare disease therapies
• Advocacy, Equity & Access
  • How Project Alive amplifies the voices of a small but urgent patient community
  • Strategies for engaging policymakers and industry partners
  • Lessons the broader rare disease field can learn from this advocacy model
• Looking Ahead & How You Can Help
  • What listeners can do to support Project Alive
  • Opportunities for advocacy, awareness-building, and community engagement

Relevant Resources: 

• Project Alive
• MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page
• The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)
• Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision
• FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy
• JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial
• A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
• FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles
• Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692.
• The Precision Medicine Initiative launched by President Obama 
• It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future) 
• National Organization For Rare Disorders (NORD)
• EveryLife Foundation For Rare Diseases
• STAT News: 1 in 10 Americans have a rare disease, but few have treatments
• Cystic Fibrosis Foundation’s Venture Philanthropy Model
• Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673
• Denali Therapeutics Drug Pipelines (including MPSII) 
• Researchers estimated that 42% of Americans over age 55 will eventually develop dementia. 
• NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria

 

Relevant DNA Today Podcast Episode:

• #147 CF Series: Bijal Trivedi on "Breath From Salt"
• #149 CF Series: Gunnar Esiason on Patient Advocacy
• #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
• #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
• #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
• #327 How Patient Advocacy is Changing Rare Disease Research
• #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight
• #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine
• #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition.

Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized.

On This Episode We Discuss:

• Parenting a Child with Cockayne Syndrome:
  • Lack of carrier screening during IVF.
  • Genetic aspects and impact on DNA repair.
  • Different types of Cockayne Syndrome and their symptoms.
• Tailored Care for Ronan:
  • Importance of specific growth charts and dietary considerations.
  • Role of a supportive community and foundation efforts.
• Overlap with Other Disorders:
  • Similarities with other DNA repair disorders.
  • Importance of awareness and advocacy.
• Support and Encouragement:
  • Message to families and caregivers about community support.
  • Emphasis on shared experiences and advocacy.

 

Relevant Resources: 

• Cockayne Syndrome Foundation
  • TikTok: @HopeForCS
  • Instagram: @HopeForCS
  • Facebook 
• Cockayne Syndrome Page on MedlinePlus 
• Trichothiodystrophy (TTD) on MedlinePlus  
• Cockayne Syndrome: A Manual for Healthcare Providers
• Cockayne Syndrome: A Manual for Parents and Caregivers
• Growth Chart: Cockayne Syndrome Type 1 and Type 2
• The National Initiative for Cockayne Syndrome (NICS) 
• Amy and Friends
• MRI Lego Set 
• Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum)
• Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329.

 

Relevant DNA Today Podcast Episode:

#39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum)

#327 How Patient Advocacy is Changing Rare Disease Research

#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

 

Connect With Us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026. 

 

The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper. 

 

Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green. 

 

In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts. 

Top 2025 Papers With Genomic Medicine Advancements

• Gene Therapy 
  • CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe
  • Utility of a high-activity variant in gene therapy for hemophilia B 
  • Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema
  • Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy
• Sequencing
  • Long-range genome sequencing enhances rare disease variant detection
  • Long-read genome sequencing identifies diagnostic variants 
  • Exome sequencing in critical illness is useful in adults as well as children 
• Other
  • Utility of pharmacogenomics in chemotherapy for GI cancers 
  • Polygenic risk score disclosure reduces adverse cardiovascular events 
  • Preimplantation genetic testing reduces risk of mtDNA diseases 

The Guests: 

 

Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine.

 

Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research.

 

Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics.

 

Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009.

Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project.

Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020).

 

With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program. 

 

Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981 and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. 

 

While directing an independent research program for just over two decades, Dr. Green was at the forefront of efforts to map, sequence and understand mammalian genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function and evolution. His laboratory also pursued human genetics studies and identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease and peripheral neuropathy. Dr. Green has received countless awards, most recently the 2025 ASHG Leadership Award where he received a much deserved standing ovation. 

Quick Fact Check: 

Kira estimated there were 30 or 40 genes in the mitochondria, she was in the ballpark, there are 37 genes. 

 

Additional Papers Referenced: 

(In order of appearance) 

 

Hobbs HH, Cohen JC, Horton JD. PCSK9: From Nature's Loss to Patient's Gain. Circulation. 2024 Jan 16;149(3):171-173. doi: 10.1161/CIRCULATIONAHA.123.064498. Epub 2024 Jan 16. PMID: 38227713; PMCID: PMC10874118.

 

Musunuru K, Urnov F. Moving Therapeutic Genome Editing into Global Clinical Trials and Medicine. CRISPR J. 2025 Aug;8(4):228-231. doi: 10.1089/crispr.2025.0049. Epub 2025 May 22. PMID: 40397097.

 

Gurevitz C, Bajaj A, Khera AV, Do R, Schunkert H, Musunuru K, Rosenson RS. Gene therapy and genome editing for lipoprotein disorders. Eur Heart J. 2025 Sep 15;46(35):3420-3433. doi: 10.1093/eurheartj/ehaf411. PMID: 40600248; PMCID: PMC12448413.

 

Logsdon, G.A., Ebert, P., Audano, P.A. et al. Complex genetic variation in nearly complete human genomes. Nature 644, 430–441 (2025). https://doi.org/10.1038/s41586-025-09140-6

 

Visscher, P.M., Gyngell, C., Yengo, L. et al. Heritable polygenic editing: the next frontier in genomic medicine?. Nature 637, 637–645 (2025). https://doi.org/10.1038/s41586-024-08300-4

 

Lapinska S, Pimplaskar A, Shi Z, Ding Y, Frydman-Gani C, Hou K, Venkateswaran V, Boulier K, Olde Loohuis LM, Pasaniuc B. Exploring depression treatment response by using polygenic risk scoring across diverse populations. Am J Hum Genet. 2025 Aug 7;112(8):1877-1891. doi: 10.1016/j.ajhg.2025.06.003. Epub 2025 Jun 27. PMID: 40580956; PMCID: PMC12362525.

 

Joon-Ho Yu, Katherine E. MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Kailyn Anderson, Megan Sikes, Lukas Kruidenier, Heidi I.S. Gildersleeve, Abbey Scott, Kati J. Buckingham, Kirsty McWalter, Paul Kruszka, Alexandra C. Keefe, Jessica X. Chong, David L. Veenstra, Katrina M. Dipple, Tara Wenger, Dan Doherty, Michael J. Bamshad,

Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis, Human Genetics and Genomics Advances, Volume 6, Issue 4, 2025, 100464, ISSN 2666-2477,https://doi.org/10.1016/j.xhgg.2025.100464.

 

Yu JH, MacDuffie KE, Sommerland O, Theoryn T, Murali P, Anderson K, Sikes M, Kruidenier L, Gildersleeve HIS, Scott A, Buckingham KJ, McWalter K, Kruszka P, Keefe AC, Chong JX, Veenstra DL, Dipple KM, Wenger T, Doherty D, Bamshad MJ. Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Adv. 2025 Oct 9;6(4):100464. doi: 10.1016/j.xhgg.2025.100464. Epub 2025 Jun 3. PMID: 40468597; PMCID: PMC12357158.

Relevant Resources:

• “World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia” via CHOP
• “Is NIH cutting corners as it rushes to fill leadership positions?” via Science Insider  
• “The U.S. Is Funding Fewer Grants in Every Area of Science Medicine” via The New York Times
• American Society of Human Genetics Past President List
• Six Things to Know About ASHG’s Advocacy Work in 2025
• Six Ways to be an ASHG Advocate
• “On the Hill and Working for You: Our Advocacy in Action” ASHG Webinar
• Mass General Brigham launches genetic test to predict risk across eight cardiovascular conditions via Broad Institute 
• Human Pangenome Project 
• “Stanford scientist (Dr. Euan Ashley) who broke genome sequencing record on what faster diagnoses mean for patients” (2023) via STAT News
• Broad Clinical Labs sets new GUINNESS WORLD RECORDS™ title for fastest DNA sequencing technique
• “All babies in England to get DNA test to assess risk of diseases within 10 years” via The Guardian 
• “Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes about the Sunshine Genetics Act 
• Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening (BEACONS)
• First U.S. National Genomic Newborn Screening Initiative Launched with $14.4 Million NIH Award
• Being an accidental pioneer in precision medicine | Matt Might | TEDxBirmingham

 

Relevant DNA Today Podcast Episode:

#110 Gattaca, 22 Years Later

#117 Dr. Janina Jeff on African Genomes

#150 Euan Ashley and Stephen Quake on The Genome Odyssey

#182 Eric Green on the Complete Human Genome Project

#183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium

#214 Genetics Wrapped 2022 (with Dr. Eric Green)

#216 African American Ancestry with Nicka Smith

#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels

#260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green)

#266 Genetics Wrapped 2023 (with Drs. Eric Green and Brendan Lee)

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1

#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2

#318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Drs. Bruce Gelb and Eric Green)

#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)

#345 How To Talk About DNA Without Losing People: Strategies Part 1

#350 How To Talk About DNA Without Losing People: Strategies Part 2

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections (with Dr. Eric Green)

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding 

 

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