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...
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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 594 episodes in English, follow new audio stories, and play episodes online on Radio and Podcast.
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Episodes
20 of 594 episodesCutting 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...
From Bloodletting to Breakthroughs in PV
Polycythemia vera is a chronic blood cancer in which bone marrow stem cells acquire mutations that drive uncontrolled production of red bloo...
When Endpoints Miss the Point
Families of children with the ultra-rare mitochondrial disorder pyruvate dehydrogenase complex deficiency, or PDCD, are fighting to get the...
Reopening the Developmental Window in Rett Syndrome with a Gene Therapy
Rett syndrome is a rare neurodevelopmental disorder that disrupts a child’s ability to purposely use their hands, communicate, and move arou...
A Data Strategy to Capitalize on a Multi Trillion Dollar Opportunity
Rare diseases are often thought about in terms of the financial burden they create, but a new paper from the World Economic Forum urges poli...
When a Gene Echoes Through a Family
A single genetic diagnosis can ripple through generations and reshape medical care for an entire family. Cascade genetic testing, the offeri...
Changing the Autoimmune Disease Playbook with RNA-Engineered CAR T Cells
Autoimmune diseases like myasthenia gravis have long forced patients to trade daily function for chronic immunosuppression, but Cartesian Th...
Rewriting Rare Disease R&D with Foundation Models
Drug development has long been a costly, trial-and-error effort, with nine out of ten clinical programs failing despite major scientific adv...
Resetting Aberrant Tregs Epigenetically to Treat Autoimmune Diseases
Shimon Sakaguchi shared the 2025 Nobel Prize in Physiology or Medicine for his identification of regulatory T cells that suppress autoimmune...
Finding a Ready Treatment for a Newly Discovered, Ultra-Rare Disease
When a toddler with a neurodevelopmental delay, poor muscle tone, and no hair came to Caleb Bupp’s genetics clinic, it led not only to the d...
One Rare Mother’s Quest to Rewrite Her Son’s Future with a Gene Therapy
Amber Freed transformed the shock of her son’s diagnosis with an ultra-rare neurodevelopmental disorder into a determined campaign for gene...
Transforming TSC Epilepsy with a Precision Therapy
Tuberous sclerosis complex is a rare genetic condition caused by changes in the TSC1 or TSC2 gene that over-activate a key growth-control pa...
Bridging the Valley for Rare Disease Drug Development
The Oxford-Harrington Rare Disease Centre represents a transatlantic alliance created to bridge academic research and drug development for...
Turning a Rare Cancer into a Call to Action
Floyd Stewart was diagnosed with late-stage nasopharyngeal carcinoma, a rare, fast‑growing head and neck cancer that advanced quietly until...