Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For 14 years, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.
***Best Science and Medicine Podcast Award Winner (2020, 2021 and 2022)***
Learn more (and stream all 400+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.
This show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows.
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#305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”
Episode 305
Friday, September 6, 2024 • Duration 41:39
On Episodes #288 and #289 of DNA Today, I spoke with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease (SCD) symptoms. Since then, I’ve met two amazing patient advocates—Wunmi Bakare and Dima Hendricks—who also have Sickle Cell Disease. They've expanded my understanding of gene therapy and other emerging treatments for SCD, and perfect timing to kick off Sickle Cell Disease Awareness month this September.
In this episode, Wunmi Bakare and Dima Hendricks share their personal journeys with SCD and delve into their experiences exploring curative therapies. They also discuss their new podcast, Through The Genes, launched on World Sickle Cell Day (June 19th, 2024). Their show offers an insightful look into the risks, benefits, and limitations of gene- and cell-based therapies for Sickle Cell Disease.
Topics Covered in This Episode:
Wunmi and Dima’s personal experiences living with Sickle Cell Disease and their exploration of curative therapies
Available curative therapies for Sickle Cell Disease, including stem cell transplants and gene therapy
The obstacles that prevented Dima from qualifying for gene therapy
Wunmi’s stem cell transplant experience, including the procedure, recovery process, and symptom changes post-transplant
The use of the term “cure” in the context of gene therapy for Sickle Cell Disease—how it may create misconceptions
The importance of managing expectations around gene therapy and its long-term effects
How mental health has played a significant role in their SCD journeys, including the emotional aspects of undergoing transformative therapy
The crucial role of support systems—family, friends, and healthcare providers—during and after treatment
Wunmi’s post-stem cell transplant follow-up care and the importance of continuity in care after gene therapy
The harsh reality of medical racism faced by those living with Sickle Cell Disease, and how Wunmi and Dima navigate and advocate within the healthcare system
Their hopes for the future of Sickle Cell Disease treatment and advice for others considering gene therapy
Our Guests:
Wunmi Bakare is a multicultural citizen and advocacy trailblazer in the sickle cell and rare disease communities. Fueled by purpose and the pursuit of social inclusion, her advocacy efforts focus on erasing the stigma of sickle cell disease through proactive and reactive engagement with the media.
She sits on the curative therapy advisory board for Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, and Healthful Data and is a patient ambassador for Health Union and AllStripes. She was diagnosed with the most severe type of sickle cell disease (HbSS) at 18 months then participated in a clinical trial at the National Heart, Lung and Blood Institute (NIH-NHLBI) where she received an allogeneic stem cell transplant in 2019.
Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a platform that celebrates the lived experience of sickle cell patients globally.
Dima Hendricks, a resilient sickle cell advocate and co-founder of #ThroughThePain Inc., has dedicated over two decades to championing health awareness. Her journey includes conducting health workshops and contributing to various panel discussions. Collaborating with esteemed organizations like the American Red Cross and the American Heart and Stroke Association, Dima has extended her impact in the health community.
In addition to her advocacy, Dima has an impressive history in pageantry. She has earned titles such as Miss Black Dorchester USA, Miss Black Massachusetts USA, Mrs. Massachusetts International, and the 2024 International Mrs New England. Her experience in the pageant world spans over ten years, during which she has taken on roles as a director, coach, and judge.
Dima's inspiring story of overcoming obstacles is captured in her book "Unleashing Royalty," where readers can discover her journey to triumph.
Wunmi Bakare and Dima Hendricks are passionate patient advocates and hosts of Through The Genes, a podcast dedicated to educating and empowering those affected by Sickle Cell Disease. Both Wunmi and Dima use their personal experiences with SCD to raise awareness and spark change within the medical community, focusing particularly on the potential of gene therapies. Stay tuned for part two of our conversation, where I’ll be a guest on their show, Through The Genes, to continue this important dialogue! You can listen by searching “Through The Genes” in your podcast app or on their website ThroughTheGenes.com and follow the show on Instagram, LinkedIn, and Facebook. You can personally follow Wunmi Bakare and Dima Hendricks as well. Not only is it an audio podcast, but like us, they also produce it as a video podcast and you can watch all episodes here.
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
#304 HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch
Episode 304
Friday, August 30, 2024 • Duration 01:07:57
Content/Trigger Warning: This conversation includes sensitive topics of sexual abuse, violence, suicide, and homicide. It is not suitable for younger audiences.
We delve into the complex and deeply personal story of the Galvin family, which has played a significant role in the history of schizophrenia research. Our guest, Lindsay Mary Galvin Rauch, is the youngest of twelve siblings in the Galvin family, six of whom were diagnosed with schizophrenia. Their family's genetic material has been a cornerstone of nearly every major genetic study on the disorder since the 1980s, contributing invaluable insights into the genetic underpinnings of schizophrenia.
Lindsay shares her unique perspective growing up in a large family profoundly affected by mental illness, as chronicled in Robert Kolker's award winning book Hidden Valley Road and the HBO 2024 documentary Six Schizophrenic Brothers.
Hidden Valley Road has achieved a long list of accolades…
Instant #1 NEW YORK TIMES best-seller
Official selection of OPRAH’S BOOK CLUB
A NEW YORK TIMES, WALL STREET JOURNAL, and WASHINGTON POST Top Ten Book of the Year
PEOPLE ’s #1 Best Book of the Year
Named a Best Book of the Year by NPR, Time, Slate, Smithsonian, Forbes, Audiophile, Parade, Kirkus, Library Journal, Publisher’s Weekly, the Evening Standard (UK), the Sunday Times (UK), The New York Post, and Amazon
Finalist, PEN/John Kenneth Galbraith Award for Nonfiction
Featured in PRESIDENT BARACK OBAMA’s list of favorite books of the year
Lindsay's life's journey inspired her evolution from victim and survivor to advocate and thriver. She enjoys sharing her story of the courage to heal and fortitude in adversity. The hope for greater compassion for those affected and their families is her north star. Lindsay is a board member of and Well Power (formally the Mental Health Center of Denver).
#296 Epigenetics and Beyond: Dr. John Greally's Journey
Episode 296
Friday, July 5, 2024 • Duration 46:21
In this special episode, Kristina Inman, a recent graduate of Sarah Lawrence College's genetic counseling program, interviews Dr. John Greally, a leading figure in the field of genetics and pediatrics. Kristina Inman delves into Dr. Greally’s groundbreaking work and personal journey.
Dr. John Greally, is the director of the Center for Epigenomics, Professor of Genetics and Pediatrics, and Chief of Division of Computational Genetics at the Albert Einstein College of Medicine and the Children's Hospital at Montefiore in the Bronx.. He is also co-directing the new NORD Center of Excellence, the NY Center for Rare Diseases, with Dr. Melissa Wasserstein.
Episode Highlights:
Introductions:
Overview of Dr. Greally’s professional background and the new initiatives he's leading, including the NY Center for Rare Diseases.
The connection through guest host Kristina Inman’s graduate thesis work and the relevance of genetic counseling in their lives.
Professional Work:
An in-depth look at the NY Center for Rare Diseases and its mission.
Discussing the critical issues of genomic privacy and health equity in genomics.
Exploring Genomic Tech/GenomeDiver and their impact on the field.
Personal Journey:
Dr. Greally shares his research background and the inspiration behind his upcoming book on epigenetics.
His thoughts on the portrayal of epigenetics in the media and the focus on functional non-coding variants (fNCVs) in his current research.
Explanation of terms like “regulatory landscape” and “molecular quantitative trait loci (molQTL)” at an accessible level.
Exciting collaboration with Google Research and Deep Mind to develop a machine learning model for identifying fNCVs.
Dr. Greally's personal experience with his diagnosis, the emotions involved, and how it influenced his professional perspective.
#206 Phenotypically-Driven Clinical Results with Dr. Lora Bean
Episode 206
Friday, October 14, 2022 • Duration 38:41
Dr. Lora Bean gives an overview of phenotypically-driven clinical results in this episode of DNA Today!
Dr. Lora Bean is a clinical molecular geneticist who currently serves as the Senior Director of Quality Assurance at PerkinElmer Genomics. Dr. Bean has expertise in traditional clinical molecular testing as well as newer techniques such as next generation exome and genome sequencing. She has served as a molecular editor for GeneReviews and as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the ABMGG, and is currently a laboratory inspector and a Biochemical and Molecular Genetics Committee member for the College of American Pathologists. Previously, she served as an Associate Professor in the Department of Human Genetics and Senior Director and Regulatory Director of the EGL Genetics (formerly Emory Genetics Laboratory) Molecular Diagnostic Laboratory. Dr. Bean earned her PhD in the Department of Human Genetics at Case Western Reserve University and completed a postdoctoral fellowship at Emory University. She is board-certified by the American Board of Medical Genetics and Genomics and a fellow of the American College of Medical Genetics.
On This Episode We Discuss:
Differences between gene panels, exome, and genome sequencing
Adapting workflows from exome to genome utilizing existing frameworks
Advantages of different types of testing
Limiting the floodgates of variants that inevitably come with whole genome sequencing
Helpful information for providers to include with specimens to guide the laboratory when the data are analyzed
The role of phenotypic data specifically in classification of sequence variants
Deep intronic variants
#205 Multiple Sulfatase Deficiency with the United MSD Foundation
Episode 205
Friday, October 7, 2022 • Duration 39:12
Y’all YOU made it happen. DNA Today won the Best 2022 Science & Medicine Podcast Award! We are honored to defend our title for the THIRD year in a row. Thank you listeners! An astonishing 5.7 MILLION people voted in the Podcast Awards this year, so it truly took each and every one of you for DNA Today to win. This was perfect timing to close out September which marked a decade of DNA Today and our 200th episode. Huge shoutout to our sponsors who make this show possible! I was able to mention a few during the acceptance speech, but I wish I had time to highlight all 40+. Listeners make you check out our Sponsors page for all the details. Anyway, I want to thank my team for so much hard work. Thank you to Corinne Merlino, Amanda Andreoli, Kajal Patel, Sanya Tinaikar, Ash Enokian, and Megha Matur for all your hard work. And it all comes back to you listeners; it’s the People’s Choice Podcast Award, so thanks for choosing us. It really means the world to us.
This week we were joined by Amber Olsen and Faith McGown of the United MSD Foundation
to discuss Multiple Sulfatase Deficiency (MSD), an ultra rare, fatal genetic condition, and what it’s like to run a rare disease nonprofit!
Amber Olsen is the mother of Willow, a child diagnosed with MSD. Following WIllow’s diagnosis, Amber formed the United MSD Foundation, traveling the world to find a treatment to help the children with this devastating disease. She will not stop until enough money is raised to bring research into the clinic for the children with MSD. Amber and her husband Tom have 3 wonderful daughters, Kylee 15, Jenna 11, and Willow 4 years old.
Faith McGowan is a campaign consultant at the United MSD Foundation. For more than 30 years, Faith has successfully supported the mission and financial goals of nonprofit and corporate organizations. Her work has included development, sales and marketing, public and media relations, event development and management, and securing individual, foundation and corporate support for nonprofit organizations. Faith has a BA in Journalism from the University of Minnesota and began her professional career in journalism. She is an avid runner and certified as a yoga instructor and health coach. Faith and her daughter live in Memphis, Tennessee.
#204 Mosaicism with FUTR Podcast
Episode 204
Friday, September 30, 2022 • Duration 49:50
Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)
Have you ever wondered why Calico cats look the way they do? Is there a human equivalent? What does our genetic future look like?
This week we’re featuring an episode of the FUTR Podcast where our host, Kira Dineen, was invited as a guest to chat about mosaicism. We’ve touched on mosaicism on DNA Today in the past, but we really dive into it in this episode!
FUTR.tv focuses on startups, innovation, culture and the business of emerging tech with weekly podcasts featuring Chris Brandt and Sandesh Patel talking with industry leaders and deep thinkers.
On This Episode We Discuss:
Mosaicism
The genetics of Calico cats
Sex disorders
X-chromosome activation
Cytogenetics
CRISPR
#203 CTNNB1 Syndrome with Effie Parks of Once Upon a Gene
Episode 203
Friday, September 23, 2022 • Duration 36:02
Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)
Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.
When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes.
Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on of Once Upon a Gene where genetic counselors shared impactful rare disease stories!
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
Episode 202
Friday, September 16, 2022 • Duration 38:27
Learn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field.
We’re joined by genetic counselor, Ann Martin, who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics. She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from Episode 177 of DNA Today, which was a really fun episode where we geeked out on the power of whole genome sequencing!
Sick of Zoom conferences? The Connecticut Genetic Counselors Association’s first conference is in person! Jackson Laboratory is hosting us on Friday, October 14th in Farmington, CT. Our host, Kira Dineen, will be the moderator for Roe v. Wade Panel where we will be discussing the implications for practicing in a safe harbor state. Other presentation topics include polygenic risk scores, inclusive practice for LGBTQIA+ patients, and billing/credentials. We also built in networking time so we can all chat and get to know each other. Register here!
On This Episode We Discuss:
DMD average age of onset, symptoms, and symptom progression
DMD prevalence and inheritance
Why it’s important for people to be offered carrier screening before they are trying to conceive
#201 Sickle Cell Disease with Lifting the Veil
Episode 201
Friday, September 9, 2022 • Duration 29:00
It’s Sickle Cell Awareness month, so we are sharing this episode of Lifting the Veil
podcast where Beveraly Mills and Elaine Buck interview our host, Kira Dineen, about the condition!
On Lifting the Veil, Beverly and Elaine cover, and uncover, the truth about African-American history. Misconceptions, lies, skewed facts, and untruths about the African-American narrative get straightened out here, once and for all.
On This Episode We Discuss:
Health disparities specifically in black community
Birth mortality rates of black people
Funding/support for sickle cell disease research compared to other disease like cystic fibrosis
Henrietta Lacks’s story and its impact on science, medicine, and her family
Treatments for sickle cell including bone marrow transplant and CRISPR clinical trials
You can listen to the episode here, and check out their other episodes on New Pod City. If you’re interested, you can read the article mentioned throughout the interview, “Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity,” here!
Keep up with Beverly Mills and Elaine Buck on LinkedIn, and follow the Stoutsburg Sourland African American Museum on , Beverly and Elaine are the co-founders!
#200 Reflecting on a Decade of DNA Today
Episode 200
Friday, September 2, 2022 • Duration 27:40
This is a milestone episode for two reasons. As you may have noticed, it’s our 200th episode. Technically we had about 20 episodes prior to numbering them, but these are mini lessons and not really full episodes. These started when we were broadcasting live from WHUS 91.7 FM.
The other milestone is that September 1st marks 10 years of DNA Today. We released our first episode in 2012. Back then our host and producer, Kira Dineen, was starting her senior year of high school, fast forward a decade and now she has her masters in genetics and has been practicing as a genetic counselor for 2 years! As a high schooler she dreamed of reaching people around the world, little did she think she would be producing DNA Today ten years later with two Podcast Awards, ranking in top 1% of podcasts globally with 40+ sponsors.
This journey has been incredible. We have had countless guests on the podcast that have brought immense insight into the field of genetics, the life of living with a genetic condition or caring for someone who does, groundbreaking advancements in genetic technology, discussions exploring the ethics surrounding this technology, and so many more important conversations.
During this episode we are looking back at the last 10 years and 200 episodes. We are featuring your voices. Voices of people that make this show possible. Listeners. Team members. Guests. And more. So you will hear these voice memos sharing people’s favorite episodes, followed by clips from the episodes.
We want to thank you so much. DNA Today would not be successful without you. It’s your downloads, engagement, and support that keep this show going. We are so passionate about educating the world about genetics, it’s you that keeps us going. I am humbled by your support and honored to be in this role.
Shoutout to the following listeners, guests, and DNA Today team members for submitting voices memos featured in this celebratory episode: Corinne Merlino, Sophia Saladino, Ashlyn Enokian,
Beyond discussing the scientific impact of her family's contributions, Lindsay opens up about her personal experiences, including the challenges of living with so many siblings diagnosed with schizophrenia, the role of trauma in mental health, and her decision to take on the responsibility of caring for her brothers later in life.
Listeners will gain insights into the following topics:
The Galvin family's pivotal role in schizophrenia research and the discovery of a SHANK2 gene mutation linked to the disorder.
The varied symptoms of schizophrenia among her brothers and what this diversity reveals about the condition.
The impact of trauma on the onset of schizophrenia symptoms, and how this played out in her family.
The challenges and responsibilities of managing care for siblings with schizophrenia, including the effects of medications, electroshock therapy, and the issue of anosognosia (lack of insight into one's illness).
The ongoing stigma surrounding schizophrenia and the need for societal change to better support those with mental health disorders.
The process of genetic testing for the SHANK2 familial mutation and the decisions made regarding her own children.
Lindsay’s reflections on personal resilience, mental health, and her hopes for the future of schizophrenia research.
During the interview we mentioned a couple content/resources to check out including…
Also during the episode Kira and Lindsay Mary weren’t confident about the name of the therapy that Peter was receiving. They should have been, as they got it right, electroconvulsive therapy (ECT).
Lindsay has been launched onto the international stage due to her family's story. She has spoken for the Psych Congress, The NEI Conference, and many other prestigious programs. Speaker Inquiries are accepted at lindsaymarygalvinracuh.com. and donations to assist with her brother's care can be made at GalvinFamilyTrust.org.
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen. 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.
The impact of Dr. Greally’s personal experience on his approach to patient care and his connection to families with congenital conditions.
The implications of receiving a variant of uncertain significance (VUS) in genetic testing and its potential impact on patients.
Reflection & Advice:
Dr. Greally reflects on his journey, lessons on resilience, the importance of genetic testing, and the potential benefits of universal genetic screening.
Advice for patients dealing with similar conditions and for young professionals entering the field of genetics and genetic counseling.
Future Work:
Insights into Dr. Greally’s future plans, upcoming projects, and areas of excitement in his work.
Resources for listeners who want to learn more about Dr. Greally’s research and initiatives.
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
Kira was off by one, but Dr. Bean was right, ACMG has 73 genes on the list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
If you found the topics that we discussed on this episode interesting, check out this recorded presentation from Dr. Bean entitled, “Why Bigger Isn’t Only VOUSier.”
Stay tuned for the next new episode of DNA Today on October 21st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
When Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), her mother, Amber was told to love and care for Willow but that there was no cure for this terrible fatal condition. Amber set out to find and fund the cure for MSD. That’s when she started the United Multiple Sulfatase Deficiency Foundation. She shares this personal experience on Episode 205 of DNA Today including how this affected her family and the relationships she has built with other families in the MSD community. (SPONSORED)
TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)
On This Episode We Discuss:
Willow’s diagnostic odyssey
Effects of MSD on the body
How lysosomal conditions like MSD cause neurological symptoms
We’d like to share a few of the materials mentioned in this episode; the United MSD Foundation’s physician guide, and this guide for parents and caregivers that have a child that has recently been diagnosed with MSD.You can follow the United MSD Foundation on Twitter, Facebook, LinkedIn, Instagram, and YouTube.
Stay tuned for the next new episode of DNA Today on October 14th, 2022 where we’ll be discussing phenotypically driven clinical results with Dr. Lora Bean of PerkinElmer Genomics! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)
PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)
When it comes to the quality of genetic testing, the most important aspect to consider is patient care. At Blueprint Genetics, patients come first. In order for a test to be considered high quality, it should provide valuable information for the patient. That’s why Blueprint Genetics is focused on prioritizing quality and delivering answers to patients and their families. Stay tuned for our interview with Blueprint Genetics where we will define what quality genetic testing means. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)
The recent overturn of Roe v. Wade
Keep up with FUTRtech on Twitter, Facebook, LinkedIn, and YouTube, and listen to their entire library of episodes on a wide range of tech topics here.
Stay tuned for the next new episode of DNA Today on October 7th, 2022, where we’ll be discussing Multiple Sulfatase Deficiency! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)
TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)
PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)
Meeting other parents and caregivers of people with rare diseases
Where people can listen to the podcast
Effie’s son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family!
If Effie’s story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.
Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we’ll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)
TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)
PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)
Reproductive options for people who are carriers of DMD
What symptoms carriers of DMD are at risk for
Getting the right testing for DMD
Current treatment approaches for DMD (EMFLAZA)
Ongoing clinical trials
PPMD’s guides for caregivers of newly diagnosed people
If you’re interested in learning more about Decode Duchenne, the free genetic testing, counseling, and education program offered through a joint partnership between PerkinElmer Genomics and Parent Project Muscular Dystrophy, visit their website.
We’d also like to feature a paper authored by one of our guests, Dr. Madhuri Hegde, about a single NGS-based assay that is highly sensitive for diagnostic testing for DMD and is also suitable for confirmatory testing for newborn screening for DMD.
If you found today’s episode topic interesting and you want to learn more about DMD, we also chatted with Rich Horgan of Cure Rare Diseases whose brother has DMD in Episode 156!
Stay tuned for the next new episode of DNA Today on September 16th 2022, where we’ll be joined by Effie Parks of Once Upon A Gene Podcast to discuss CTNNB1 Syndrome! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal.
TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today.
Stay tuned for the next new episode of DNA Today on September 16th, 2022 where we’ll be joined by Ann Martin and Madhuri Hegde to discuss Duchenne Muscular Dystrophy. New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.org/NewDeal. (SPONSORED)
Katie Lee, Amanda Andreoli, Daniel DeFabio, Faith McCarthy, Laura Markham, Paloma Boeck, Taila Stanford, Sanya Tinaikar, Kajal Patel, and Mahfuz Taofeeq.
Stay tuned for the next new episode of DNA Today on Friday, September 9th where we will be discussing sickle cell disease in honor of the awareness month. Our host Kira Dineen is interviewed by Beverly Mills and Elaine Buck. If you want a sneak preview the episode has been released on their podcast, Lifting the Veil.
New episodes are released on Fridays. In the meantime, you can binge all 200 episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)
Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.org/NewDeal. (SPONSORED)
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