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.
All in Rare Disease
#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.
#192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer
Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.
#188 Propionic and Methylmalonic Acidemia with HemoShear Therapeutics
Patient advocate, Bryan Kelly, & HemoShear CMO, Dr. Pat Horn, discuss life with Proprionic and Methylmalonic Acidemia and an investigational therapy.
#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy Chung
First episode of the N-Lorem Foundations’ “Patient Empowerment Program” features an actor turned patient advocate and a pediatric geneticist.
#173 GRIN1 with Keith McArthur
Keith McArthur shares about his son Bryson’s GRIN1 rare disease diagnosis and his family's experience connecting with others in the community.
#172 PhenoTips: Advances in Rare Disease Diagnosis
Drs. Stephen Kingsmore, Marshall Summar, and Ellen Thomas join Dr. Pawel Buczkowicz to discuss the diagnostic odyssey in this installment of the PhenoTips Speaker Series.
#171 Farber Disease with Aceragen
In honor of Rare Disease Month we explore Farber Disease with Dr. Alex Solyom and Katie Crosby of Aceragen.