What parents Caleb and Abbi Walh wish every family knew about navigating a rare diagnosis.
All in Rare Disease
#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.
#323 Supporting Ongoing Urea Cycle Disorder (UCD) Care
Two UCD experts, Holly Bernal and Laurie Bernstein, share how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs.
#322 Susannah’s Nano-Rare Journey: 2 Years of Treatment and Triumph
Join Susannah’s father, Luke Rosen, and her physician, Dr. Jennifer Bain, as they share her remarkable progress and hope-filled journey with n-Lorem’s groundbreaking nano-rare treatments.
#308 Congenital Myasthenic Syndromes with Dr. Hanns Lochmüller
After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller.
#303 RNA Analysis with Ambry Genetics
Dr. Rachid Karam explains how RNA testing increases diagnostic yield and reduces variants of uncertain significance in cancer and exomes.
#299 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita
The role of the ATP6V0C gene in epilepsy is explored with researcher Dr. Kari Mattison and v-ATPase Alliance’s Dr. Luis Miguel Oliveira and Ana Rita.
#296 Epigenetics and Beyond: Dr. John Greally's Journey
Exploring genomics while serving communities in The Bronx, the evolving study of epigenetics, and learning through personal insight from a clinical geneticist.
#285 AI To Enhance Variant Curation with Daniel Uribe
A follow up interview to our most streamed episode of 2023 to explore how AI can be used as a tool to prioritize or curate variants from genetic testing.
#254 Bardet Biedl Syndrome with The Alms
Episode drop of It Happened To Me with parents of a child with Bardet Biedl Syndrome, a rare disease affecting vision, obesity, extra fingers/toes and other symptoms.
#253 Inborn Errors of Immunity with Felicia Morton and Torry Howell
Rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell, join us to talk about inborn errors of immunity including chronic granulomatous disease.
#248 Ornithine Transcarbamylase (OTC) Deficiency
Researchers, Dr. Aimée Dudley and Dr. Andrea Gropman, and patient advocate, Tresa Warner, discuss the most common urea cycle disorder.
#208 The 100,000 Genomes Project with Dr. Julian Barwell
Dr. Julian Barwell shares insight on the 100,000 Genomes Project and how digital pedigrees are essential to the project and healthcare.
#207 N-Lorem: Dr. Sessions Cole on the Diagnostic Odyssey
The robust processes to evaluate applications to n-Lorem’s nano-rare patient treatments.
#205 Multiple Sulfatase Deficiency with the United MSD Foundation
Amber Olsen and Faith McGown of the United MSD Foundation discuss Multiple Sulfatase Deficiency.
#203 CTNNB1 Syndrome with Effie Parks of Once Upon a Gene
Podcast host and rare disease advocate, Effie Parks, chats about her son Ford who has CTNNB1 Syndrome.
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
World-renowned geneticist, Madhuri Hegde, and Genetic counselor, Ann Martin discuss the genetics of Duchenne Muscular Dystrophy (DMD) and potential treatments.
#196 Mitochondrial Disorders with Devin Shuman and Lissa Poincenot
Mitochondrial experts Devin Shuman and Lissa Poincenot discuss Leber Hereditary Optic Neuropathy.