RARECast

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599

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Jun 2026

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About the show

RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy. ]]>

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60 recent

June 11, 202633 min

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 far grimmer prognosis. MSA has a median survival of just seven to eight years after symptom onset. Toxic aggregates of alpha‑synuclein and excess brain iron create a vicious cycle of neuronal damage that drives the multisystem motor and autonomic decline characteristic of the disease. Alterity Therapeutics is developing an oral, brain‑penetrant therapy designed to redistribute excess iron, reduce alpha‑synuclein aggregation and oxidative injury, and ultimately slow disease progression. David Stamler, CEO of Alterity, discusses the biology of MSA, the company’s promising clinical results to date, and why this therapeutic approach may also have application in other neurodegenerative diseases.

June 4, 202635 min

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 sequencing, and improved economics are converging to shorten the diagnostic odyssey for patients and families. PacBio’s long-read whole-genome sequencing overcomes the limitations of exomes and short read technologies by capturing structural variants, epigenetic signatures, and regulatory information, which raises diagnostic yields by 10 to 15 percentage points and increasingly justifies its use as a first-line test. PacBio CEO Christian Henry discusses the company’s long-read HiFi whole-genome sequencing, how it is reshaping the rare disease diagnostic journey, and the growing acceptance of the technology among payers.

May 28, 202646 min

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 recently, there had been no approved therapies. In Friedreich’s ataxia, a genetic mutation causes a deficiency in frataxin, a protein that plays an essential role within mitochondria and affects enzymes involved in energy production. Solid Biosciences is developing a gene therapy designed to restore frataxin where it is needed. Friedreich’s Ataxia Research Alliance CEO Jennifer Farmer and Solid Biosciences chief medical officer Gabriel Brooks discuss the lived reality of Friedreich’s ataxia, Solid Bioscience’s next-generation gene therapy now in development to address the underlying cause of the disorder, and what genuine partnerships between patient organizations and industry look like when patient priorities drive trial design and development decisions.

May 21, 202639 min

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 needed insights from patient families, yet institutional barriers made it nearly impossible to capture the nuanced, lived experiences that could inform drug development and improve care. Drawing on her background as a healthcare service coordinator and her firsthand experience navigating rare disease research, Walsh created Winsights, a platform that transforms casual patient conversations into structured, regulatory-grade data while ensuring families retain ownership and control over how their contributions are used. Walsh, founder and CEO of Winsights, discusses her daughter's diagnostic journey, the critical gaps in how patient experience informs drug development, and how Winsights empowers rare disease communities to drive research priorities.

May 14, 202636 min

Raising Awareness of Clinical Trials

Patients facing medical decisions often find themselves drowning in confusing information that is laden with scientific terminology and often neglects the human element. Keith Berelowitz, a clinical research operations veteran motivated by personal experience, created the Trialport platform to embed trial information in patient community websites with plain language, multilingual support, and behavioral assessments that go beyond medical eligibility. The company partners with patient advocacy groups while providing sponsors with real-time behavioral insights that reveal how patients engage with trial information. Berelowitz, founder and CEO of Trialport, discusses his vision for a future where clinical trials are discussed alongside standard of care as a routine healthcare option, the gap between clinical trial availability and patient awareness, and how the Trialport platform works to help both patients and sponsors understand readiness for clinical trials.

May 7, 202619 min

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 with GeneDx to build one of the most comprehensive longitudinal rare disease datasets ever assembled. John Wollman, head of revenue strategy at Komodo Health, discusses how Komodo’s longitudinal real‑world data on more than 330 million de-identified U.S. patient journeys, combined with GeneDx’s genomic testing and rich phenotypic information, can shorten diagnostic odysseys, rapidly enable natural history studies, and help stakeholders across the rare disease continuum make smarter and faster decisions for people living with rare diseases.

April 30, 202638 min

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 patients with suspected rare diseases obtain faster, more definitive answers. Akash Kumar, co‑founder and chief medical officer of MyOme, discusses where genome sequencing now fits into care pathways, how it captures hard‑to‑detect variant types; and what it means for treatment decisions, clinical trial access, and the emotional burden on families searching for a diagnosis.

April 23, 202645 min

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 currently has no approved disease-modifying therapies. The disorder causes profound developmental disabilities, epilepsy, motor and speech impairments, and multi-system challenges. The two mothers co-founded the FOXG1 Research Foundation to advance treatments for the condtion. Johnson and Fitter discuss how a parent-driven foundation became a virtual biotech capable of advancing a gene therapy into human clinical trials, how they prioritized translational work over academic projects that don’t move a therapy toward the clinic, and the lessons they’ve learned that can guide other rare disease communities.

April 16, 202645 min

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 Biomedical to apply functional precision medicine to rare and pediatric cancers. First Ascent uses this approach to transform care for children with rare and relapsed cancers by moving beyond protocols built on averages to decisions grounded in each child’s tumor biology. Foote, CEO of First Ascent, discusses how combining genomics, functional assays, and AI offers a realistic path to better outcomes, fewer lifelong toxicities, and more rational use of existing anti-cancer drugs that are not yet used optimally for individual children.

April 9, 202623 min

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, is exploring similarities in rare autoimmune conditions that may allow it to treat a number of different disorders with a single therapy. We spoke to Pablo Sardi, head of rare disease research at Sanofi, about the company’s oral BTK inhibitor rilzabrutinib, the challenges of testing one drug in different rare diseases, and how this kind of approach might push doctors to focus less on symptoms and more on the root causes of a rare disease.