DNA Today: A Genetics Podcast

#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight

This week we attended the 2025 Connecticut Rare Disease Forum organized by BioCT and held at the beautiful Jackson Laboratory. This afternoon was filled with industry-led discussions on innovation in rare disease diagnostics and treatments, along with the promising impact of these advancements on patient outcomes.
 
After the events wrapped, I caught up with Pamela Gavin, who serves as the President and CEO of the National Organization for Rare Disorders (NORD). She was on the panel, “Bringing Science to the Patient: Moving Upstream Toward Durable Response and Cures.”
 
This in-person conversation explores the vital role of patient advocacy organizations, particularly NORD, in supporting individuals with rare diseases. It discusses the evolution of patient advocacy, the importance of genetic testing, and the need for a robust workforce in genetic counseling. We emphasize the significance of building effective organizations and learning from successful models to enhance the impact on rare disease communities.
 
Takeaways
NORD serves as a safe, trusted place for people to connect regarding rare diseases.
Patient advocacy organizations play a crucial role in drug development and research.
The landscape of patient advocacy has evolved significantly in recent years.
Building effective rare disease organizations requires understanding best practices and community needs.
Learning from successful organizations can help new groups avoid common pitfalls.
Genetic testing is becoming increasingly important in diagnosing rare diseases.
The future of genetic counseling faces challenges due to increasing diagnoses and limited workforce.
Engaging the next generation in genetics is essential for the future of healthcare.
Collaboration and communication within the rare disease community can lead to better outcomes.
Advocacy organizations must adapt to the rapid advancements in genetic technology and testing.
 
Our Guest
 
Pamela Gavin was appointed chief executive officer of the National Organization for Rare Disorders (NORD®) in May 2024, becoming the third CEO in the organization’s 42-year history. Gavin’s deep connection to the rare disease community and extensive professional experience make her uniquely suited to lead NORD into its next chapter of innovation, advocacy and impact. Before joining NORD, she held several influential roles in healthcare innovation and safety, including as senior director, Strategic Business Initiatives at the University of Pittsburgh Medical Center, where she launched emerging technologies to improve healthcare delivery; government consultant responsible for developing the Federal Safety Reporting Portal for the NIH, FDA and other organizations; founder and executive of SafeCare Systems, a pioneer in safety management information systems; and division director at the Harvard Risk Management Foundation. Gavin holds a Master of Business Administration in Healthcare Management from Northeastern University and a bachelor’s degree from Smith College. 
 
DNA Today Episodes Referenced
#147 CF Series: Bijal Trivedi on "Breath From Salt"
#149 CF Series: Gunnar Esiason on Patient Advocacy 
#293 Smith-Magenis Syndrome with Parent Scotti Taylor
 
There are countless episodes about rare diseases, many of which are captured in this YouTube playlist. 
 
Get involved with a rare disease organization here on NORD’s website. 
We’re honored to share that "DNA Today" has once again been recognized by Feedspot as one of the Top 10 DNA Podcasts, Top 25 Genetics Podcasts, and Top 70 Award-Winning Podcasts! Even more exciting? We continue to hold the Number 1 spot as the leading podcast about DNA! This achievement is thanks to our incredible guests, engaged listeners, and amazing supporters. Your enthusiasm for genetics and genomics keeps us inspired to bring you the latest discoveries, expert interviews, and meaningful stories. Thanks to Anuj Agarwal for continuing to recognize our podcast every year!
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 300 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. 

#331 Pediatric Mock Genetic Counseling Session: Autism and Developmental Delay

This is our third installment in our new Mock Genetic Counseling Session Series! In this episode, pediatric genetic counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session. This session’s indication is one of the most common in pediatric genetics: autism. 
 
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:
 
Miranda Di Biase, MS, CGC, is a Pediatric Genetic Counselor at the Children's Hospital at Montefiore Einstein. Her clinical focus centers on counseling families on genetic testing options to find a potential genetic etiology for their child's medical concerns. Di Biase also specializes in pediatric cancer predisposition syndromes and Williams syndrome. Di Biase's research focuses on genome sequencing. She participated in the NYCKidSeq research study, which performed whole genome sequencing for patients with neurological, immune and/or cardiac health problems. Her work has been shared through numerous scientific publications and abstracts.
 
After obtaining her Bachelor of Science from York University in Toronto, Canada, Di Biase moved to New York to earn her Master of Human Genetics at Sarah Lawrence College. Di Biase is certified by the American Board of Genetic Counseling and was nominated for the prestigious Heart of Genetic Counseling award in 2021 presented by the National Society of Genetic Counselors and Invitae. This award honors genetic counselors who have made a difference in the lives of their patients by using the combination of human excellence and human compassion that defines the profession. 
 
Claire Zimlinghaus is a second year graduate student at the Sarah Lawrence College Joan H. Marks Human Genetics program. She received a Bachelor's degree in Biological Sciences from the University of Pittsburgh in 2023. Claire has had a passion for the science of genetics since her youth, and hopes to be a source of information and empathy for her patients as a genetic counselor.
 
Joy Lin is currently a second year genetic counseling student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She received her Bachelor of Science in Biochemistry and Psychology from Stony Brook University. She is passionate about genetics and hopes to provide meaningful care to individuals and families as a genetic counselor.
Pediatric Mock Session Case Information 
 
Case Details: The patient is a 4 year old male with autism and global developmental delay who presented to genetics with his mother and sister-in-law.
 
Patient Name: John
 
Parent Name: Claire
 
Sister-in-law Name: Joy
 
Medical History:
Pregnancy:
Uncomplicated 
Non-invasive prenatal screening: low risk for trisomies
Ultrasounds were normal
Full term via NSVD
Exposures: none
Developmental milestones: delayed
Sitting: 10 months
Walking: 2 years
Talking: 3 years
Can speak in 2-3 word sentences
Education
Preschool 
Therapies
OT (2x weekly, 30 min)
ST (2x weekly, 30 min)
PT (2x weekly, 30 min)
Review of Systems
ENT - ear infections (3x)
Normal physical exam
Specialists seen:
Neurologist, Audiologist, Developmental Pediatrician 
 
Family History:
Ancestry: Irish and German
No consanguinity, birth defects, genetic conditions, multiple miscarriages or infant deaths
Cousin with autism
Pediatric Mock Session Outline
 
Contracting:
Greetings and introductions
Reason for referral to genetic counseling
Overview of session
Address patient questions or concerns
 
Medical Intake:
Pregnancy history, developmental milestones, review of systems, and other relevant medical history
 
Family History:
Construct a pedigree
Consanguinity, ID/DD/autism, birth defects, genetic conditions, multiple miscarriages, infant deaths, etc.
 
Physical Examination
Done by the geneticist
 
Patient Education
Overview of genetics
Causes of autism spectrum disorder
Discussion of multifactorial causes, chromosomal abnormalities, single-gene disorders
Discuss appropriate testing options:
Chromosomal microarray + Fragile X syndrome testing
Whole exome sequencing (WES)
Whole genome sequencing if indicated
Sample collections blood versus saliva 
Possible results
Negative, Positive, Variant of Uncertain Significance
Incidental findings
Secondary findings can be reported for ES and GS 
Turnaround time
Cost and insurance coverage
Shared decision-making
Informed consent
 
Recommendations and next steps
Summary of the session
Follow up with genetic counseling to discuss test results
 
Final questions and conclusion of session
 
Stay tuned for the continuation of our mock genetic counseling session series inspired by a cumulation of cases. 
 
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. 
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 300 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. 

#330 Rare Disease Parenting: A 7-Year Diagnostic Odyssey to Wiedemann-Steiner Syndrome

Happy Rare Disease Day! We are celebrating by shining a light on Wiedemann-Steiner Syndrome (WSS), which is a rare genetic condition that affects development, growth, and overall health.
Joining us are Caleb and Abbi Wahl, parents to two daughters, one of whom, Jenni Anne, was diagnosed with WSS after a seven-year diagnostic odyssey. 
They share:🧬 Early signs & the long road to diagnosis💡 How they processed & adapted to the diagnosis🤝 Resources & the support that made a difference📢 Their advocacy work & the power of the WSS community
Resources: 
Team IMPACT 
Uplifting Athletes
WSS Foundation 
National Organization for Rare Disorders 
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 300 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.

#329 Preventive Genomic Medicine: Saving Lives and Healthcare Costs with MyOme

How can preventive genomic medicine save $200 billion annually in healthcare costs? Dr. Matthew Rabinowitz breaks it down in this episode.
Dr. Rabinowitz—a true pioneer in genetics, diagnostics, and AI—who’s been at the forefront of transforming how we approach health and medicine. Dr. Rabinowitz isn’t just a scientist; he’s a visionary who’s helped create groundbreaking technologies, from revolutionizing pregnancy care to tracking cancer through blood tests. In 2024, he was named R&D Leader of the Year by R&D World. Now, he’s tackling preventative genomic medicine, showing us how tools like whole genome sequencing (WGS) and polygenic risk scores (PRS) are turning healthcare from reactive to proactive.
Dr. Rabinowitz is the co-founder and Executive Chairman of MyOme and has played a key role in developing cutting-edge genomic technologies. His work has shaped the fields of reproductive genetics, cancer diagnostics, and precision medicine. With over 100 patents and publications, including papers in Science and Nature, his impact on healthcare is undeniable.
Topics Covered:
How whole genome sequencing (WGS) is reshaping healthcare and risk assessment
The power of polygenic risk scores (PRS) in cancer prevention and early detection
MyOme’s Breast Cancer Polygenic Risk Score (PRS) and its implications for proactive medicine
The economic benefits of genomic medicine in early intervention and disease prevention include potentially saving $200 billion annually in healthcare costs
Ethical considerations and the importance of inclusivity in genomic research
The future of preventive genomic medicine—will WGS become standard care? Will it start with newborns?
Resources and Links:
Learn more about MyOme and its work in preventive genomic medicine: myome.com
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 300 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. 

#328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases

This week, I attended BIO’s CEO and Investor Conference in New York City—one of the largest investor gatherings in the biotech industry. The conference, organized by BIO (Biotechnology Innovation Organization), brings together institutional investors, industry analysts, and senior executives to discuss the latest biotech advancements and investment opportunities.
At the conference, I attended insightful panel discussions and company presentations where biotech CEOs shared their latest breakthroughs, research progress, and investment potential. After their presentations, I had the chance to sit down with two biotech leaders to dive deeper into their work: Dr. Premal Patel of Cellinfinity Bio and Dr. Travis Whitfill of Azitra.
Guest Bios:
Dr. Premal Patel
A physician-scientist with 15 years of experience in medical oncology drug development, Dr. Patel has worked with major biotech companies like Genentech, Pfizer, and Juno Therapeutics. He specializes in CAR-T therapy, a groundbreaking approach to engineering immune cells to fight cancer. Now, as CEO of Cellinfinity Bio, he’s focused on tackling one of cancer treatment’s biggest challenges: using CAR-T to treat solid tumors.
Dr. Travis Whitfill
A serial biotech entrepreneur and venture capitalist, Dr. Whitfill co-founded Azitra, a company pioneering the use of synthetic biology to engineer skin bacteria for treating rare genetic skin diseases. He has led multiple biotech startups, served on the boards of several healthcare companies, and was named to Forbes’ 30 Under 30 (Healthcare) list in 2018.
Interview Highlights:
Dr. Premal Patel – CAR-T Therapy for Solid Tumors
CAR-T cell therapy has revolutionized blood cancer treatment, but treating solid tumors remains a major challenge.
Dr. Patel explains how Cellinfinity Bio is re-engineering T cells to overcome the barriers posed by solid tumors, making them more effective at infiltrating and attacking cancer cells.
His team’s gene engineering approach aims to make CAR-T therapy more accessible and affordable, potentially bringing costs down to the range of antibody-based treatments.
The ultimate goal: a game-changing, in-body T-cell reprogramming approach that could expand access to CAR-T therapies globally.
Dr. Travis Whitfill – Engineering Skin Bacteria for Rare Diseases
Azitra is developing synthetic biology solutions for rare genetic skin diseases, like Netherton syndrome, which currently has no FDA-approved treatments.
Their novel therapy aims to treat skin rashes in cancer patients taking EGFR inhibitor drugs, reducing the need for high-dose antibiotics and steroids.
Genetically modified bacteria (Staphylococcus epidermidis) are used to deliver missing proteins directly to the skin, a groundbreaking approach in dermatology and rare disease treatment.
By integrating precision genetic engineering with synthetic amino acid control, Azitra ensures the therapy is both effective and safe.
Resources & Links:
Learn more about BIO’s CEO & Investor Conference here
Explore Cellinfinity Bio’s CAR-T research here
Discover Azitra’s work in synthetic biology here
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 300 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. 

#327 How Patient Advocacy is Changing Rare Disease Research

February marks Rare Disease Month, and we’re kicking it off with an incredible advocate in the rare disease community—Gay Grossman!
Gay is the co-founder of ADCY5.org, a foundation dedicated to supporting individuals with ADCY5-related movement disorder. Her advocacy journey began with her daughter, Lilly, who went undiagnosed for 15 years before becoming the first known patient with a full-body presentation of ADCY5-related movement disorder.
Since then, Gay has transformed her personal experience into global action, building a rare disease community that has directly influenced research and treatment options. Her efforts have bridged the gap between patients, families, researchers, and industry stakeholders, leading to groundbreaking advancements in genetic testing, patient data sharing, and treatment development.
Gay now works at GeneDx, where she continues to empower families through genetic testing and data-driven research.
On This Episode We Discuss:
- Raising a child with an undiagnosed rare disease – The emotional and practical challenges of a 15-year diagnostic journey- The power of community in rare disease research – How ADCY5.org changed the research landscape- Genetic testing and patient data – Why it’s crucial for rare disease families and how to leverage it- Life after diagnosis – How Lilly manages symptoms and what treatments have been most effective- How YOU can support the rare disease community – Advocacy, awareness, and action
If you are in the San Diego area, join Gay Grossman, Effie Parks and other rare disease advocates at their event downtown on Feb 28th (aka Rare Disease Day), more info here. If you are not in San Diego, find an event more local to you here. 
 
Speaking of Effie Parks, be sure to check out her podcast Once Upon A Gene, and stick around until the end to hear her son Ford’s adorable laugh. Effie was on Episode #203 of DNA Today and our host Kira Dineen was a guest on her podcast in Episode #143. 
 
During this episode we also mentioned another parent of a kid with a rare disease that includes sleep disturbances. Scotti Taylor shared about her daughter’s Smith Magenis Syndrome on Episode #293. 
 
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 300 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. 

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

True crime dominates the podcasting world, but what about the genetic aspects behind these cases? In this episode of DNA Today, we dive into the pivotal role of DNA in forensic science with Dr. Henry Erlich, a pioneer in DNA analysis and a key figure in developing polymerase chain reaction (PCR) technology. His work has transformed the criminal justice system, from solving cases to overturning wrongful convictions.
Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to criminal investigations, missing persons cases, and ancestry research. His lab performed the first DNA case in the US and, in 1988, the first DNA exoneration. Erlich was the Director of the Department of Human Genetics and Vice-President of Discovery Research for Roche Molecular Systems, Inc until 2013. He is currently a Senior Scientist at Benioff Children’s Hospital Oakland Research Institute. He has published > 450 articles and is the recipient of numerous awards.
After reading his book Genetic Reconstruction of the Past, I had countless questions about how PCR reshaped the justice system, its impact on exonerations, and the ethical implications of forensic DNA databases.
Trigger Warning: This episode contains discussions of murder and sexual assault, which may not be suitable for young listeners.
Topics Covered:
The development of PCR technology and its revolutionary impact on forensic genetics
How PCR outperformed older methods like RFLP in criminal case investigations
Pennsylvania vs. Pestinikas (1986), the first criminal case using DNA analysis
Key forensic DNA terms explained: inclusion, match, exclusion, and random match probability
The role of DNA evidence in exonerations and wrongful convictions
How forensic labs analyze DNA from multiple individuals at crime scenes
The establishment of the FBI’s National DNA Index System (NDIS) and who is included
The ethical concerns surrounding partial DNA matches and familial searching
How public DNA databases like GEDmatch helped identify the Golden State Killer
Dr. Erlich’s insights into the O.J. Simpson case and its impact on public perception of forensic DNA
Resources and Links:
Read Genetic Reconstruction of the Past by Dr. Henry Erlich
Explore the National DNA Index System (NDIS) and CODIS
The Innocence Project: Fighting wrongful convictions with DNA evidence
GEDmatch and its role in forensic investigations
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 300 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. 

#325 Revolutionizing Variant Curation with MAVEs

We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs). 
Joining us are two leading experts in the field:
Dr. Lea Starita, Associate Professor at the University of Washington and Co-Director of the Brotman Baty Advanced Technology Lab.
Dr. Douglas Fowler, Professor of Genome Sciences and Co-Director of the Center for the Multiplexed Assessment of Phenotype.
Together, they break down how these groundbreaking methods work, their advantages over traditional approaches, and their potential to advance precision medicine. From the challenges of interpreting MAVEs data to their role in reducing health disparities and resolving variants of uncertain significance (VUS), this episode offers a comprehensive look at the future of genomics.
Dr. Lea Starita is an Associate Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.
Dr. Douglas Fowler is a Professor of Genome Sciences and an Adjunct Professor of Bioengineering at the University of Washington. Dr. Fowler is co-Director of the Center for the Multiplexed Assessment of Phenotype, an NHGRI Center of Excellence in Genome Sciences. He is also a founder and current co-chair of the Atlas of Variant Effect Alliance executive committee.
 
Key Topics Covered:
What are MAVEs, and why are they revolutionary for variant curation?
How MAVEs allow for simultaneous testing of thousands of genetic variants.
Real-world applications of MAVEs in understanding specific genes and conditions.
How MAVEs resolve VUS and accelerate precision medicine.
Ethical and practical considerations in moving MAVEs from research to clinical practice.
The role of collaboration and initiatives like the Atlas of Variant Effect Alliance in advancing the field.
 
Resources: Atlas of Variant Effects Alliance: Precision medicine at nucleotide resolution
Variants and Us (VUS) Podcast 
Introduction to Deep Mutational Scanning (Animation)
An Atlas of Variant Effects to understand the genome at nucleotide resolution
Understanding haemophilia, one amino acid at a timeWill variants of uncertain significance still exist in 2030?
Mutational Scanning Symposium 2025 in Barcelona in May 2025
Impact of Genomic Variation on Function (IGVF) Consortium
N-Lorem developing ASOs for nano-rare diseases
NIH’s ClinVar Database 
 
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 300 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.

#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)

With millions of people now taking GLP-1 agonists like Ozempic and Wegovy, I was curious to learn if there are known genetic mutations that predispose people to have serious side effects from these medications. So exploring the pharmacogenomic aspects of Ozempic and Wegovy. 
 
To answer these questions Dr. Josiah Allen is joining the show. Josiah Allen, PharmD, has spent over 15 years in the field of pharmacogenomics, beginning at the Mayo Clinic where he helped develop the GeneSight test. As a founding employee and the first medical science liaison at Assurex Health, he helped GeneSight become one of the fastest growing molecular diagnostic tests in history.
 
He later served as director of medical affairs at OneOme and now works at St. Elizabeth Healthcare in Edgewood, KY, as a precision medicine pharmacist and PGY2 Clinical Pharmacogenomics pharmacy residency program director. He earned his bachelor's degree in psychology from Wheaton College and his Doctor of Pharmacy degree from the University of Minnesota.
 
In the recording, Dr. Allen teases that the Board of Pharmacy Specialties (BPS), the post-licensure certification organization serving the pharmacy profession, will issue a call for petition in pharmacogenomics. The board will be reviewing the petition and evaluating pharmacogenomics as a pharmacy specialty. In the days after we recorded this was released and you can find the full press release here.
Topics Covered:
The basics of pharmacogenomics and its role in personalized medicine.
How genetic mutations, like those in the RET gene, influence medication risks.
The pharmacogenomics of GLP-1 agonists (like Ozempic and Wegovy), including their contraindications for patients with RET mutations.
Insights into the overlap between ACMG secondary findings and pharmacogenomic implications.
Case studies illustrating the real-world impact of pharmacogenomics.
Key Takeaways:
GLP-1 agonists, such as Ozempic and Wegovy, carry a black box warning due to an association with thyroid cancer, particularly in individuals with RET gene mutations.
Over one-third of the ACMG secondary findings genes have pharmacogenomic implications, emphasizing the need for clinicians to integrate genetic insights into prescribing practices.
Pharmacists and geneticists need closer collaboration to bridge the gap between clinical genomics and pharmacogenomics for safer medication use.
Resources:
GeneReviews
PharmGKB
Table of Pharmacogenomic Biomarkers in Drug Labeling
FDA Black Box Warning on GLP-1 Agonists
Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 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.

#323 Supporting Ongoing Urea Cycle Disorder (UCD) Care

Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think about and treat these conditions today is evolving.
 
In this first episode of a series focused on the evolution of UCD management, we discuss the current state and importance of UCD management, and how clinicians can support their patients to sustain their daily UCD care. Joining us for the discussion are two renowned biochemical genetics experts with direct UCD patient care experience.
 
Holly Bernal, RN, MSN, FNPc is the nurse practitioner with Stanford Biochemical Genetics and has been in that role for the last 8 years. She originally earned her bachelor’s degree at San Francisco State University in 1991 followed by her master’s degree at UCSF in 1999. In 2016 she returned to San Francisco State and earned her FNP certificate and started her role in biochemical genetics. She has a passion for metabolic genetics and also coordinates Stanford’s newborn screening program.
 
Laurie Bernstein, MS, RD, FADA, FAND is a metabolic dietitian and Professor Emerita of the University of Colorado School of Medicine. Her significant contributions to the field of biochemical genetics include helping to found the professional organization Genetic Metabolic Dietitians International (GMDI) and co-founding Metabolic University, a training forum for new metabolic genetics clinicians. She is a co-editor and author of the textbook, Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, and has also co-authored various other educational modules for families with IEMs.
 
 
On This Episode, We Discuss:
The importance of tailoring UCD management plans based on the emerging and evolving needs of today’s patient population
How clinicians can support patients with sustaining daily UCD management
Strategies clinicians can use to better engage patients in their own UCD care
 
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 is Ashlyn Enokian. This episode is sponsored by AMGEN.
 
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