Spotting Neuromuscular Red Flags
Many older adults may dismiss dropping objects, struggling with stairs, or tiring on short walks as a matter of just getting older, but it c...
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RARECast
RARECast is a Global Genes podcast hosted by veteran journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
RARECast Podcast Guide
Listen to RARECast, a Business podcast by RARECast. Stream 607 episodes in English, follow new audio stories, and play episodes online on Radio and Podcast.
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Episodes
20 of 607 episodesExpanding into a Global Rare Disease Player through Deal-Driven Innovation
Chiesi Global Rare Diseases has rapidly evolved from a small, regional rare‑disease business into a global organization, leveraging strategi...
When Geography, Cost, and Policy Become as Life-Limiting as a Disease
When Tom Sayiner was diagnosed with the fatal neurodegenerative disease ALS, he and his wife, Tamara, learned that tofersen had been approve...
A One-Time Cell Therapy to Reset the Immune System in Autoimmune Diseases
People with rare, severe autoimmune diseases often live for years with progressive, disabling conditions managed by chronic immunosuppressio...
Building the Infrastructure for Made‑to‑Order Gene Therapies
The case of baby KJ Muldoon, an infant born with a lethal genetic metabolic disorder, demonstrates the potential to compress years of therap...
Rewiring the Rare Disease Diagnostic Odyssey
Families seeking a diagnosis for a rare disease often face a protracted diagnostic odyssey that can include ER visits, specialist referrals,...
Emerging from a Life in the Shadows
Erythropoietic protoporphyria (EPP) is a rare, inherited metabolic disorder that triggers a toxic photochemical reaction in skin when expose...
Fitting Big Genes into Small Vectors
Many disease‑causing genes are too large to be packaged into standard AAV gene therapy vectors, leaving a long list of otherwise gene-therap...
Targeting Iron Dysregulation in the Neurodegenerative Condition MSA
Multiple system atrophy is a rapidly progressive neurodegenerative condition that is often misdiagnosed as Parkinson’s disease but carries a...
Long Reads, Shorter Journeys
The ability to diagnose rare diseases is at a turning point as greater genomic awareness, technological advances in long-read HiFi sequencin...
The Critical Role of Patient Community-Industry Partnership in Advancing a Gene Therapy
Friedreich’s ataxia is a progressive, multisystem disease that robs people of coordination, independence, and often life itself. Until recen...
Capturing the Lived Experience of Rare Disease
When Kasey Walsh's daughter was diagnosed with an ultra-rare genetic disorder, she discovered a frustrating paradox: researchers desperately...
Raising Awareness of Clinical Trials
Patients facing medical decisions often find themselves drowning in confusing information that is laden with scientific terminology and ofte...
Using AI and Longitudinal Data to Transform Rare Disease Care
Matching phenotype to genotype at scale could transform how rare diseases are found, understood, and treated. Komodo Health has partnered wi...
Cutting through the Diagnostic Maze for Rare Diseases
Whole genome sequencing is reshaping the rare disease diagnostic odyssey by replacing years of serial, narrow gene panels and helping patien...
How Parents Took Development of a Gene Therapy into Their Own Hands
Nicole Johnson and Nasha Fitter are both mothers of daughters with the ultra-rare neurodevelopmental condition FOXG1 syndrome, which current...
Matching the Right Therapy to the Right Child with a Rare Cancer
When Jim Foote lost his son, Trey, to osteosarcoma, it exposed the limits of one-size-fits-all cancer protocols. He co-founded First Ascent...
From Treating Symptoms to Addressing Causes in Rare Autoimmune Diseases
When the immune system misfires, it can cause very different rare diseases that, on the surface, don’t seem related at all. Sanofi, though,...
A Mother’s Journey to Rewrite a Neurodevelopmental Disorder
Špela Miroševič, a psychotherapist and biopsychologist working as a researcher at the Medical University Ljubljana in Slovenia became immers...
How a Foundation Built Its Own Drug Program for an Ultra-Rare Disease
Schaaf-Yang syndrome is an ultra-rare neurodevelopmental disorder that is closely related to but distinct from Prader-Willi syndrome. It typ...