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 tagged 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.
#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.
#293 Smith-Magenis Syndrome with Parent Scotti Taylor
An advocate and parent shares her personal journey and insights about her adult daughter who was recently diagnosed with SMS.
#278 DNA Dialogues: Rare Disease Family Experience
New podcast launch! Check out the first episode of the official Journal of Genetic Counseling Podcast, “DNA Dialogues”.
#277 Trisomy 18 with Parent Sarita Edwards
Fellow podcaster (Being Rare) and the CEO/President of the E.WE Foundation shares her experience parenting a child with Trisomy 18 and the resources she created for fellow parents.
#274 Wolfram Syndrome with Stephanie Snow Gebel
Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.
#273 ENPP1 Deficiency Disorders with Inozyme
Inozyme’s Chief Scientific Officer Dr. Yves Sabbagh and Co-President of GACI Global Christine O’Brien share their insight on these conditions.
#271 Genetic Optic Neuropathies with Dr. Andrew Carey
Episode drop of “It Happened To Me” exploring the genetics of rare optic neuropathies.
#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy
Praxis Genomics’ Chief Medical Officer explains how these genetic technologies can provide advantages over traditional testing methods.
#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.
#223 PhenoTips: Rare Disease Diagnosis Workflow
Learn how to build integrated workflows for rare disease diagnosis from PhenoTips’ Dr. Orion Buske and Charles Keenan.
#222 Wilson’s Disease with Naseem Amin
Naseem Amin, CEO of Orphalan, explores Wilson’s disease and current FDA-approved treatments.
#219 It Happened To Me Podcast: Genetic Counselors for Rare Diseases
Episode drop of “It Happened To Me” with Kira Dineen sharing how genetic counselors can help people with rare diseases.
#217 SynGAP1 with Mike Graglia and Elli Brimble
Patient advocate Mike Graglia and genetic counselor Elli Brimble discuss SynGAP1-related disorders.
#214 2022 Genetics Wrapped with Eric Green
NIH’s Eric Green discusses the top genetics and genomics headlines of 2022 with our host, Kira Dineen!
#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.