PNRI Science: Rare Disease, Real Progress – Détails, épisodes et analyse

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PNRI Science: Rare Disease, Real Progress

PNRI

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Fréquence : 1 épisode/37j. Total Éps: 12

PNRI Science: Mystery & Discovery goes beyond the jargon to explore the passion and people at the forefront of genetic research. Our host, Jack Faris, is CEO of Pacific Northwest Research Institute, a 68-year-old genetics and genomics research institute in Seattle. He is also a regular guy who happens to spend his days around really smart people. Jack interviews PNRI’s brilliant scientists to share what excites them about genetic research, what inspired them to become scientists, and those myths about science they would love to bust. His daughter, Anna Faris, introduces each episode, connecting groundbreaking discoveries to everyday life. Join us as we dig into the mysteries that may very well hold the key to our future health breakthroughs. To learn more about PNRI’s scientists and groundbreaking research, visit pnri.org. Follow @pnrigenetics on Instagram | X (Twitter) | LinkedIn | YouTube | Facebook.

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Episode 6: Dr. Aimée Dudley: Patients + Researchers = Strength

Saison 1 · Épisode 6

mardi 8 octobre 2024 • Durée 45:56

“One thing that is surprising to people is that there's a lot of creativity in science. There are a million different ways to answer a question.” - Dr. Aimée Dudley

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI’s Senior Investigator and Interim Chief Scientific Officer, Dr. Aimée Dudley, about how her lab harnesses the awesome power of yeast to pinpoint which genetic variants cause disease. Her lab’s research is used by physicians across the nation to diagnose critically ill newborns with urea cycle disorders. She works closely with physicians and patient families to accelerate the research needed for accurate diagnoses.

Aimée Dudley, PhD, is a PNRI Senior Investigator and Interim Chief Scientific Officer and an affiliate faculty member in the University of Washington’s Department of Genome Sciences and faculty member in the Molecular Engineering Graduate Program and the Molecular and Cellular Biology Graduate Program. She also serves as an Editor-in-Chief at PLoS Genetics. She earned a PhD in genetics from Harvard Medical School, and was an Alexander Hollaender Distinguished Postdoctoral Fellow in Dr. George Church’s laboratory at Harvard Medical School.

What you'll hear in this episode:

[2:44] Meet Aimée Dudley
[8:15] A day in the life of a scientist
[12:10] Myths and misunderstandings about rare diseases
[20:12] Distrust of scientist is a critical problem
[24:25} The future––sequence a newborn’s DNA?
[36:47] Aimée’s journey into science
[41:56] The team: scientists, clinicians, and parents

In this episode, Aimée delves into the mindset of a scientist and the creativity in the process. She explains how yeast can reveal genetic discoveries about human health, and takes us into the world of rare disease research that brings together scientists with physicians and patients to quickly build the strength of the research to transform healthcare.

The Dudley Lab embodies PNRI’s spirit of intellectual freedom to drive medical breakthroughs. We provide the freedom for scientists to follow where the science leads, and that culture creates incredible discoveries.

To learn more about Aimée check out her lab webpage: pnri.org/dudley-lab. Join us for our Rare Disease Day scientific symposium on 2/28/25!

Connect with PNRI, ask our scientists questions, or come on a lab tour! pnri.org/about/connect

This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris.

www.instagram.com/annafaris

Follow @PNRIgenetics on Instagram | LinkedIn | YouTube | Facebook | X (Twitter).

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Episode 5: Dr. Cláudia Carvalho: Science is a Social Experiment

Saison 1 · Épisode 5

mardi 24 septembre 2024 • Durée 38:42

“Rare diseases are leading an interesting revolution in medical science. They are leading the field to try new approaches that can help these families.” - Dr. Cláudia Carvalho

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI’s Assistant Investigator, Dr. Cláudia Carvalho, about her international collaborations working together to solve the unsolved case of rare diseases. Her lab digs deep into the human genome to locate the structural variants in DNA that cause disease.

Cláudia Carvalho, PhD, is a PNRI Assistant Investigator and an affiliate faculty member in the University of Washington’s Department of Genome Sciences and the Molecular and Cellular Biology Program. She earned her PhD in Biochemistry from the Federal University of Minas Gerais in Belo Horizonte, Brazil, and completed a postdoctoral fellowship at the Baylor College of Medicine.

What you'll hear in this episode:

[2:54] Meet Dr. Cláudia Carvalho
[5:29] A Hack-a-thon as a way of working intensely
[10:04] Working with rare diseases
[13:27] Dr. Carvalho got interested in science at 5 years old
[19:09] The ways rare diseases affect the family
[23:40] Scientists unite to research rare diseases
[30:56] The changing landscape in the culture of science
[34:29] Dr. Carvalho’s vision for the future
[36:06] Glimpsing 10 years into the future

In this episode, Cláudia explains how a recent hackathon accelerated discovery of genetic variants that can cause rare diseases. She shares how international collaboration is leading the effort to understand the origins of diseases to identify treatments and offer hope to families.

The Carvalho Lab embodies PNRI’s spirit of intellectual freedom to drive medical breakthroughs. We provide the freedom for scientists to follow where the science leads, and that culture creates incredible discoveries.

To learn more about Cláudia, read her in-depth Q&A: or check out her lab webpage: . Join us for a future and scientific symposium on 2/28/25!

Episode 4: Dr. Michael Metzger: Future of Healthcare from a Clam

Saison 1 · Épisode 4

mardi 10 septembre 2024 • Durée 42:57

“If there's a way for an animal to evolve to block cancer, I want to know what that is. I think it has the potential to be really useful for humans.” - Dr. Michael Metzger

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI’s Assistant Investigator, Dr. Michael Metzger, about contagious cancer in clams. This cancer is over 400 years old and might hold the key to humans resisting cancer. We might all be thanking a clam for saving us from cancer in the future!

Michael Metzger, PhD, is a PNRI Assistant Investigator and an affiliate faculty member in the University of Washington’s Department of Genome Sciences and the Molecular and Cellular Biology Program. He earned his BS at Cornell University, and his MS in Epidemiology and PhD in Molecular and Cellular Biology from the University of Washington.

What you'll hear in this episode:

[1:21] Meet Michael Metzger
[2:23] Real-time science experiments
[3:30] Three types of transmissible cancers
[7:30] Can you get cancer from a clam?
[11:56] Michael’s career path, incuding how he arrived at clams
[19:26] Mentorship during Michael’s career
[27:03] Who are the stakeholders with the clams?
[34:31] Interdisciplinary research and cross-talk between fields
[37:03] Science in today’s world

In this episode, Michael explains the 400-year-old contagious cancer in clams and how studying it can illuminate pathways for future cancer treatments in humans. He also delves into how this cancer is also similar to an infectious disease and to a parasite. His lab’s interdisciplinary approach is creative, novel, and critical to unlocking our possible resistance to cancer.

The Metzger Lab embodies PNRI’s spirit of intellectual freedom to drive medical breakthroughs. We provide the freedom for scientists to follow where the science leads, and that culture creates incredible discoveries.

To learn more about Michael, read his in-depth Q&A: or check out his lab webpage:

Episode 3: Dr. Bill Hagopian and Michael Killian: Tracking Ghosts

Saison 1 · Épisode 3

mardi 27 août 2024 • Durée 48:22

“Studying viruses is like tracking ghosts. It's incredibly difficult work.” - Dr. Bill Hagopian

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews the TEDDY Study’s Principal Investigator Dr. Bill Hagopian and PNRI’s TEDDY Clinical Research Manager Michael Killian who have led the massive international study, The Environmental Determinants of Diabetes in the Young, or “TEDDY,” for more than 20 years.

As part of the study, PNRI has been collecting samples from participants age three months to 15 years for more than two decades. From blood draws to stool samples and even baby teeth, these samples help determine the environmental factors that lead to type 1 diabetes.

William A. Hagopian, MD, PhD, has been a leader in diabetes research for over 30 years. He earned his PhD in biochemistry as well as his MD from the University of Chicago. Michael Killian has been managing clinical services for PNRI for 26 years.

What you'll hear in this episode:

[0:00] Understanding the Teddy Project
[3:34] Meet Bill Hagopian
[7:07] Meet Michael Killian
[9:49] Environmental triggers and preventative measures
[20:00] Challenges and myths in type one diabetes research
[26:04] Innovative Sampling techniquest and data collection
[35:54] Future directions and broader impact
[45:05] Optimism for the future of science

In this episode, Bill and Michael illuminate how tracking viruses is like tracking ghosts, share what we have learned about type 1 diabetes over 20 years, and discuss where the field is going in the future. The TEDDY study is a treasure trove of longitudinal data that is revolutionizing care for type 1 diabetes.

The Hagopian Lab embodies PNRI’s spirit of intellectual freedom to drive medical breakthroughs. We provide the freedom for scientists to follow where the science leads, and that culture creates incredible discoveries.

To learn more about Bill and Michael, read their : or check out his lab webpage:

Episode 2: Dr. Lisa Stubbs: Demystifying Nature vs. Nurture

Saison 1 · Épisode 2

mardi 13 août 2024 • Durée 43:53

Dr. Lisa Stubbs: Demystifying Nature vs. Nurture

“Genetics give you susceptibilities–that you are prone to this kind of problem. But you don't develop that kind of problem unless you're exposed to the right environment.” - Dr. Lisa Stubbs

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI Senior Investigator Dr. Lisa Stubbs about the intersection of nature versus nature and how chronic stress and genetics influence pregnancy outcomes.

Lisa Stubbs, PhD, is a Senior Investigator and Interim Co-Chief Scientific Officer at Pacific Northwest Research Institute. She earned her PhD from the University of California, San Diego, and completed postdoctoral fellowships at the California Institute of Technology and the European Molecular Biology Laboratory in Heidelberg, Germany. Currently, Dr. Stubbs is an Associate Editor of the scientific journal, PLoS Genetics, an affiliate member at the Carl R. Woese Institute for Genomic Biology at the University of Illinois, and a Graduate Faculty member in the same institution’s department of Cell and Developmental Biology.

What you'll hear in this episode:

[0:00] Nature vs Nurture
[1:17] Meet Dr. Lisa Stubbs
[2:49] The Genome Project’s effects on team collaboration
[5:19] Controversy surrounding the Human Genome Project
[11:34] The impacts of genetics and stress on pregnancy
[16:35] Pregnancy stress and fetal brain development
[24:30] Analyzing genetic data from pregnant women
[29:04] Genes, pregnancy complications, underserved populations
[33:19] Genetic markers for gestational diabetes in a specific population
[38:24] Dr. Stubbs’ path to science (via marine biology)

From octopus inspirations, to the history of the Human Genome Project, to how genetics interact with chronic stress, Dr. Lisa Stubbs embraces complexity. Her lab delves into the question of whether stress influences genetics or genetics influence stress and how both of those impact pregnancy. As Jack says, “It's hard for me to imagine any scientific endeavor more important than understanding how mothers and babies can be healthy.”

Episode 1: Driven by the Question with Rick McLaughlin

Saison 1 · Épisode 1

mardi 30 juillet 2024 • Durée 57:32

“To do this job, you must be curious .... it's really that curiosity, that drive to know, what is the answer to this question? Is this an interesting question? Is this an important question?” – Dr. Rick McLaughlin

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI Assistant Investigator Dr. Rick McLaughlin on what your genome and an IKEA bookshelf have in common, zombie parasites in our DNA, "junk" DNA, and what makes Darwin smile.

Rick McLaughlin, PhD, is an Assistant Investigator at Pacific Northwest Research Institute. He earned his PhD in molecular biology and protein evolution at the University of Texas Southwestern Medical Center. He did his postdoctoral fellowship in the laboratory of Dr. Harmit Malik at the Fred Hutchinson Cancer Research Center, researching the genetics of evolutionary conflict. Dr. McLaughlin also holds faculty positions with the University of Washington’s Department of Genome Sciences and the Molecular and Cellular Biology Graduate Program.

Dr. Rick McLaughlin’s Lab explores the uncharted territory of the human genome, using new technologies to understand how variation in DNA might drive disease. A new project launching soon will investigate how viral genes may contribute to pregnancy outcomes and fetal development.

What you'll hear in this episode:

[0:00] Meet Dr. Rick McLaughlin
[2:23] The mystery and importance of the placenta
[4:47] Gene evolution and placenta development
[10:25] Placental biology and genome sequencing
[14:50] Why these are exciting times for biologists
[20:11] Paths to scientific discovery
[31:01] Genome stability and mutations
[37:15] "Junk" DNA
[42:17] Immune system dysfunction and "incurable" diseases
[52:30] Curiosity-driven research

From transposable elements, to Shakespeare, to evolutionary biology, to placentas: Rick is truly exploring the unknown and walking on the dark side of the genome. The McLaughlin Lab embodies PNRI’s spirit of intellectual freedom to drive medical breakthroughs. We provide the freedom for scientists to follow where the science leads, and that culture creates incredible discoveries.

PNRI Science: Mystery & Discovery

Saison 1

jeudi 11 juillet 2024 • Durée 01:27

PNRI Science: Mystery & Discovery goes beyond the jargon to explore the passion and people at the forefront of genetic research. Our host, Jack Faris, is CEO of Pacific Northwest Research Institute, a 68-year-old genetics and genomics research institute in Seattle. He is also a regular guy who happens to spend his days around really smart people.

Jack interviews PNRI’s brilliant scientists to share what excites them about genetic research, what inspired them to become scientists, and those myths about science they would love to bust. His daughter, Anna Faris, introduces each episode, connecting groundbreaking discoveries to everyday life. Join us as we dig into the mysteries that may very well hold the key to our future health breakthroughs.

To learn more about PNRI’s scientists and groundbreaking research, visit pnri.org.

Follow @pnrigenetics on Instagram | X (Twitter) | LinkedIn | YouTube | Facebook.

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Episode 1: Two Institutions, One Powerful Event

Saison 2 · Épisode 1

lundi 5 mai 2025 • Durée 14:15

"Rare disease research is shaping the way almost all biomedical research will be carried forward in the future." — Dr. Jack Faris

What does it take to make real progress in the fight against rare diseases?

In this episode of PNRI: Rare Disease, Real Progress, PNRI CEO Jack Faris and his daughter and co-host, Anna Faris, reflect on the energy and discoveries presented at the 2025 Rare Disease Day Symposium.

Joined by special guest Dr. Vittorio Gallo, Chief Scientific Officer at Seattle Children’s Research Institute, they share pivotal moments, new therapeutic advances, and the collaborative spirit that defined the event.

You'll hear how recent innovations are changing lives—and why continued advocacy, collaboration, and investment are essential to sustaining this momentum.

In this episode:

[0:47] Welcome to the Rare Disease Day Symposium
[1:37] Why collaboration drives rare disease research
[4:06] A look at the future; faster, more connected discovery
[6:33] Dr. Vittorio Gallo on progress and partnerships
[9:20] Success stories in rare disease treatment
[11:48] Final thoughts and gratitude

About the Symposium: In honor of Rare Disease Day, on February 28, 2025, Pacific Northwest Research Institute proudly hosted a scientific symposium in partnership with Seattle Children’s Research Institute and with participation from the University of Washington. Together they celebrated the strength of Seattle’s rare disease research community–including scientists, clinicians, and patient advocates.

Connect with PNRI, ask our scientists questions, or come on a lab tour! pnri.org/about/connect

This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris.

Introducing Season 2: Voices From Rare Disease Day 2025

Saison 2

dimanche 4 mai 2025 • Durée 02:12

In Season 2, we’re bringing you something special—conversations recorded live at PNRI’s 2025 Rare Disease Day symposium. It was a day full of energy, insight, and shared purpose, as scientists, clinicians, advocates, and industry leaders came together to accelerate rare disease research and treatment.

Hosted by Jack Faris, CEO of the Pacific Northwest Research Institute, and his daughter, actor and producer Anna Faris, this season captures personal stories and fresh perspectives from across the rare disease landscape. You’ll hear from rare disease families, early-career scientists, seasoned clinicians, and corporate partners, all reflecting on what drives their work—and what’s possible when people from different sectors come together.

Because in rare disease, a diagnosis isn’t the end of the story. It’s the start of something powerful.

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