When William was diagnosed with DMD, his family set out to raise $2.2 million to design a cure with CRISPR.
#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency
Behind the scenes of Beast Games, and the bigger battle the Allens are fighting.
#341 How One Family Faced Seven ALS Diagnoses and Chose Advocacy
Debbie Lower provides her caregiver perspective and expertise ALS (Amyotrophic Lateral Sclerosis) and FTD (Fronto-Temporal Degeneration) including her family’s C9orf72 gene mutation.
#340 How Podcasting Shaped A Genetics Career: Dr. Matt Burgess Interviews Kira Dineen
Episode drop from Demystifying Genetics, a show in our brand new science podcast network, Gene Pool Media!
#339 Inherited Leukemia: Exploring Genetic Risk and Early Detection
Episode drop from All Access DNA, a show in our brand new science podcast network, Gene Pool Media!
#338 Social Determinants of Health and Mental Health in Urea Cycle Disorders
Neuropsychologist Kendra Bjoraker and metabolic nurse practitioner Erika Vucko share how clinicians can better support patients with UCDs by addressing SDOH and mental health challenges.
#337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors
Submitting a research paper? Hear from journal editors Drs. Lei Lei and Alanna Gannon as they share what you need to know to successfully get published.
#336 Sharpening Genetic Counseling Skills with GC+ Academy
The brand new on-demand GC+ Academy has launched and Carli Andrews shares how these CEUs will elevate your career.
#335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution
Mitochondrial Eve, Neanderthal genes, and the Out of Africa theory—explained by one of the pioneers of PCR, Dr. Henry Erlich.
#334 ACMG 2025 Recap
Kira Dineen and Karl Krahn recap and reflect on their first attendance at the American College of Medical Genetics (ACMG) 2025 conference in Los Angeles.
#333 Approaching a Down Syndrome Diagnosis with Care
To celebrate World Down Syndrome Day the Founder of Jack’s Basket, Carissa Carroll, shares how healthcare providers can approach a Down syndrome diagnosis with care and neutrality.
#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight
An in-person conversation at the 2025 Connecticut Rare Disease Forum with The National Organization for Rare Disorder’s President/CEO Pam Gavin sharing how patient advocacy organizations are vital to research and development.
#331 Pediatric Mock Genetic Counseling Session: Autism and Developmental Delay
Genetic Counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session where genetic testing for a child who has autism and developmental delay is explored.
#330 Rare Disease Parenting: A 7-Year Diagnostic Odyssey to Wiedemann-Steiner Syndrome
What parents Caleb and Abbi Walh wish every family knew about navigating a rare diagnosis.
#329 Preventive Genomic Medicine: Saving Lives and Healthcare Costs with MyOme
Shifting healthcare from reactive to proactive, Dr. Matthew Rabinowitz breaks down how preventive genomic medicine can save $200 billion annually in healthcare costs.
#328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases
Interviews recorded at BIO’s CEO and Investor Conference with two biotech executives: Cellinfinty Bio’s Dr. Premal Patel and Azitra’s Dr. Travis Whitfill.
#326 How DNA Solves Crimes: The Forensic Science Behind True Crime
Dr. Henry Erlich on DNA Evidence, Exonerations, and Ethical Dilemmas.
#325 Revolutionizing Variant Curation with MAVEs
Drs. Fowler and Starita explain how multiplexed assays of variant effect are helping to curate variants. Fast.
#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)
Dr. Josiah Allen explains how genetic mutations (like RET) influence the safety of GLP-1 agonists like Ozempic and Wegovy.