The Long Road from the NICU to New Therapies
Congenital hyperinsulinism can turn a newborn’s first days into a medical emergency. The body produces too much insulin, blood sugar can fal...
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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.
Episodes
20 of 611 episodesStopping Guillain-Barré Syndrome at Its Source
Guillain-Barré syndrome is a rare, rapidly progressive autoimmune disorder in which harmful inflammation attacks peripheral nerves, potentia...
From Repeated Surgery to a Precision Patch
People with the rare genetic condition Gorlin syndrome can develop dozens or even hundreds of basal cell carcinomas over their lifetimes, of...
Curing Sickle Cell Before Life Begins
Sickle cell disease is caused by a single mutation in the beta-globin gene that leads to painful crises, anemia, and organ damage. Despite a...
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...
Expanding 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...