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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.
Whole genome sequencing is reshaping the rare disease diagnostic odyssey by replacing years of serial, narrow gene panels and helping patien...
Nicole Johnson and Nasha Fitter are both mothers of daughters with the ultra-rare neurodevelopmental condition FOXG1 syndrome, which current...
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...
When the immune system misfires, it can cause very different rare diseases that, on the surface, don’t seem related at all. Sanofi, though,...
Špela Miroševič, a psychotherapist and biopsychologist working as a researcher at the Medical University Ljubljana in Slovenia became immers...
Schaaf-Yang syndrome is an ultra-rare neurodevelopmental disorder that is closely related to but distinct from Prader-Willi syndrome. It typ...
Polycythemia vera is a chronic blood cancer in which bone marrow stem cells acquire mutations that drive uncontrolled production of red bloo...
Families of children with the ultra-rare mitochondrial disorder pyruvate dehydrogenase complex deficiency, or PDCD, are fighting to get the...
Rett syndrome is a rare neurodevelopmental disorder that disrupts a child’s ability to purposely use their hands, communicate, and move arou...
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...
A single genetic diagnosis can ripple through generations and reshape medical care for an entire family. Cascade genetic testing, the offeri...
Autoimmune diseases like myasthenia gravis have long forced patients to trade daily function for chronic immunosuppression, but Cartesian Th...
Drug development has long been a costly, trial-and-error effort, with nine out of ten clinical programs failing despite major scientific adv...
Shimon Sakaguchi shared the 2025 Nobel Prize in Physiology or Medicine for his identification of regulatory T cells that suppress autoimmune...
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...
Amber Freed transformed the shock of her son’s diagnosis with an ultra-rare neurodevelopmental disorder into a determined campaign for gene...
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...
The Oxford-Harrington Rare Disease Centre represents a transatlantic alliance created to bridge academic research and drug development for...
Floyd Stewart was diagnosed with late-stage nasopharyngeal carcinoma, a rare, fast‑growing head and neck cancer that advanced quietly until...
There have been great advances in the treatment of cystic fibrosis, but nevertheless it remains a progressive, life‑shortening genetic disea...
As a college student, Megan Beaulieu first noticed her smile faltering and her arms growing weak, which she chalked up to stress and exhaust...
Dermatomyositis is a rare multi-organ autoimmune condition that primarily affects the skin and muscles. It causes fatigue, muscle weakness,...
Veteran biotech investors Steven St. Peter and Luke Evnin launched Vie Ventures to bridge traditional venture capital with disease-focused p...
When Nikki McIntosh’s son Miles was less than a year old, he was diagnosed with a form of the rare neuromuscular condition spinal muscular a...
Spinocerebellar ataxia is a group of inherited, heterogeneous neurodegenerative diseases affecting coordination, speech, and vision. There a...
A recent report from the health research network and real-world data platform TriNetX argues that by aggregating electronic health records,...
Huntington’s disease is a rare, inherited neurodegenerative disorder caused by a type of genetic mutation known as a trinucleotide repeat ex...
After Philippa Ward’s five-month-old son, Thomas, suffered infantile spasms, he was soon diagnosed with tuberous sclerosis complex—a rare ge...
Partnerships between biopharmaceutical companies and patient organizations can play a critical role in improving access and outcomes for peo...
Hunter syndrome is caused by the body’s inability to produce a critical enzyme needed to break down cellular waste. The condition can cause...
Developmental and epileptic encephalopathies are a group of rare disorders that are characterized by frequent seizures that often don’t resp...
Achondroplasia is the most common form of dwarfism. Beyond short stature, people living with achondroplasia can experience serious health co...
Recurrent high-grade glioblastoma is a rare and aggressive brain tumor, which today is generally treated with surgery and chemotherapy. Outc...
While there has been enormous innovation in the treatment of cancer over the past two decades, much of this has been focused on adult cancer...
Avion was a healthy and athletic 15-year-old who became critically ill when he was admitted into a pediatric intensive care unit. For Robin...
Recurrent respiratory papillomatosis is a potentially life-threatening disease of the upper and lower respiratory tract caused by chronic in...
Tris Dyson founded Challenge Works to incentivize innovators to solve societal problems. Dyson, who was diagnosed with amyotrophic lateral s...
When Daniel Fischer’s daughter Natasha was diagnosed with the rare genetic epilepsy, Dravet syndrome, his search for treatments eventually l...
Prader-Willi syndrome is a rare and complex genetic condition, the hallmark of which is hyperphagia, an intense and insatiable hunger. Hunge...
Rare disease advocates have long made the case that studying rare diseases can provide insights into more common ones. Actio Biosciences has...
When people with a rare disease accomplish a lot, someone might say they did so “despite their condition.” In the case of Khartik Uppalapati...
One of the challenges for developing gene therapies for inherited eye diseases is that a large number of individual mutations to a gene can...
Tepezza became an instant blockbuster when it hit the market as the first targeted therapy for thyroid eye disease, a rare autoimmune condit...
When Ben Davies was born, he had difficulty breathing. He also suffered from recurrent infections. It took five years of being in and out of...
When Melanie Kandzierski took on the role of being mother to her granddaughter Rosie, she didn’t know how it would change her world. Rosie b...
One of the challenges of delivering gene therapies to the eye is that once a subretinal injection is made, the therapy’s distribution is con...
In a medical first, a team at Children’s Hospital of Philadelphia and Penn Medicine has successfully treated an infant diagnosed with a rare...
The Children’s Tumor Foundation has been effective in working with drug developers to advance new therapies for neurofibromatosis, a group o...
Epicrispr Biotechnologies is using CRISPR to modulate the expression of disease-causing genes without making cuts to DNA. Its lead program i...
One of the hallmarks of the rare genetic disorder Prader-Willi syndrome is hyperphagia, an insatiable desire to eat. Households with someone...