Episodes
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Yearning for Normal
Susan Busch remembers her son Mike as sensitive, observant, and determined to do things that did not come easily to him. Born with the complex neurodevelopmental condition 22q11.2 deletion syndrome but not diagnosed until he was 13, Mike experienced medical emergencies, learning difficulties, and...
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Building Better Rare Disease Data
People with rare genetic diseases can spend years seeking a diagnosis, while researchers lack much of the detailed patient information needed to develop better diagnostic tools and treatments. Medical records capture only part of the picture, often leaving out observations, images, and videos…
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Using AI to Help Patients Get the Care They Need
For patients with rare diseases and other complex conditions, a prescription does not necessarily mean treatment can begin. Insurance approvals, fragmented communication, and confusing administrative requirements can leave patients and caregivers struggling to get the care their doctors…
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Targeting Immune Dysfunction in ALS
ALS is a rapidly progressive neurodegenerative disease in which the loss of motor neurons steadily erodes patients' ability to move, speak, and live independently. Available therapies have had limited impact on disease progression. Coya Therapeutics is pursuing an immune-based approach built…
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When the Patient Is Left to Connect the Dots
After unexplained facial and neck pain escalated into debilitating migraines and widespread symptoms, Monica Dubeau spent 20 months navigating 111 medical appointments with 26 specialists across four states and two countries before receiving a diagnosis of craniocervical instability. Further...
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Enabling Patient Foundations to Build the Next Generation of Genetic Therapies
For people with ultra-rare genetic diseases, a diagnosis can come with a devastating realization that there may be no treatment in development because the patient population is too small to attract traditional biopharma investment. Nome is working to change that by combining patient-led drug...
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Using Exosomes to Tackle the Delivery Challenge of Genetic Medicines for the Brain
Genetic medicine has already begun to transform the treatment of some inherited diseases, but the brain remains one of its most formidable frontiers. For disorders such as Huntington’s disease and ALS, scientists may understand key genetic contributors and have increasingly powerful editing…
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Building a Roadmap to Treat a Rare Neurodevelopmental Condition
Kleefstra syndrome is a rare neurodevelopmental condition with significant unmet medical needs, but a growing understanding of its underlying biology is creating new opportunities for therapeutic development. Eric Scheeff, chief scientific officer of Idefine and parent of a child with Kleefstra...
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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 fall to dangerous levels, and every delay in diagnosis or lapse in control can put the developing brain at risk. Even when children survive and receive expert...
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Stopping Guillain-Barré Syndrome at Its Source
Guillain-Barré syndrome is a rare, rapidly progressive autoimmune disorder in which harmful inflammation attacks peripheral nerves, potentially causing acute paralysis, respiratory failure, and lasting disability. Annexon is developing tanruperbart, a single-infusion monoclonal antibody designed…
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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, often requiring repeated surgeries that carry physical, emotional, and financial consequences. Medicus Pharma is developing SkinJect, an experimental…
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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 advances in treatment, it remains a devastating and often overlooked global health challenge, particularly in low-resource settings where children frequently…
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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 can be an early sign of a serious group of disorders known as late-onset neuromuscular diseases (LONDs). The American Neuromuscular Foundation’s Why Behind…
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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 strategic deals and development bets to reshape standards of care for patients worldwide. Giacomo Chiesi, head of the unit, discusses how the business has grown...
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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 approved in Europe as a therapy that could slow the progression of his genetic form of the disease. But the Sayiners, who live in Sweden, soon discovered they could...
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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 immunosuppression that rarely addresses the underlying cause. Kyverna is developing an autologous CAR T-cell therapy designed to deliver a deep immune reset by broadly...
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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 therapeutic development into months using an in vivo base editing approach. Jeff Coller, director of the Johns Hopkins RNA Innovation Center, wrote about the case…
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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, and dead ends, even at world-class medical centers. Parents bounce from doctor to doctor while payers absorb mounting costs, and the pivotal moment of…
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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 exposed to light. A short time in the sun for someone with the condition can result in excruciating, second-degree–like burns and leaves patients sidelined from...
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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-therapy-ready conditions without viable treatments. SpliceBio is leveraging a protein splicing platform based on engineered split inteins to overcome the cargo...
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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...
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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…
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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...
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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...
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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...
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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,...
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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...
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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...
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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...
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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...
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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 immersed in rare disease drug development after the birth of her son Urban. As an infant, Urban was diagnosed with the ultra-rare, neurodevelopmental condition...
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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 typically presents from birth with poor muscle tone, feeding and breathing difficulties, and later evolves into a broad spectrum of more severe developmental...
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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 blood cells and other lineages, thickening the blood and causing fatigue, brain fog, and intense itching when in contact with water. The condition also raises…
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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 U.S. Food and Drug Administration to provide a path to approval Saol Therapeutics’ experimental therapy without requiring another trial. The agency refused…
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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 around. It creates a lifelong caregiving burden for families, and there are still no treatments that truly change the course of the disease. Neurogene is...
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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 policymakers, payers, and business leaders to see them as one of the greatest underappreciated opportunities in global health. In “Making Rare Diseases Count…
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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 offering of targeted genetic testing to biological relatives of a person in whom a disease-causing variant has already been identified, can find at‑risk relatives,...
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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 Therapeutics is betting that its experimental RNA‑engineered CAR T cells can rewrite that equation. The company’s lead experimental therapy, Descartes‑08, is...
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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 advances. One reason is that biological information remains fragmented in silos, and traditional R&D approaches often rely on narrow, task-specific datasets....
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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 responses. His work laid the foundation for RegCell, a company he co-founded to develop cell therapies that provide targeted treatments for autoimmune…
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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 discovery of a new, ultra-rare disease, but the identification of a potential treatment in DFMO, a drug long used to treat a chronic parasitic disease. Bupp…
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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 therapy. With no clinical roadmap, sparse literature, and doctors offering only symptomatic care, she taught herself biology basics, established a nonprofit,...
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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 pathway, known as mTOR. This leads to seizures that often don’t respond to existing medicines and to noncancerous tumors in organs such as the brain, kidneys,...
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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 rare diseases. Founded in 2019 by the United Kingdom’s University of Oxford and the Cleveland-based Harrington Discovery Institute, the center leverages...
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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 it appeared as a bulge in his neck. The diagnosis became a struggle for his entire family as his treatments reshaped family life for Floyd, his wife Monique,...
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Developing a New Approach to Cystic Fibrosis to Improve Outcomes
There have been great advances in the treatment of cystic fibrosis, but nevertheless it remains a progressive, life‑shortening genetic disease as many patients still don’t reach normal function and continue to face infections, exacerbations, and impaired quality of life. Siona Therapeutics is...
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Finding Strength in Weakness
As a college student, Megan Beaulieu first noticed her smile faltering and her arms growing weak, which she chalked up to stress and exhaustion. Within weeks, her symptoms had worsened to the point that she could no longer lift her hands to wash her hair—a progression that led to her diagnosis of...
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Developing Targeted Therapies for a Rare Autoimmune Disease
Dermatomyositis is a rare multi-organ autoimmune condition that primarily affects the skin and muscles. It causes fatigue, muscle weakness, and painful skin rashes. Treatment for the condition has long centered on the use of chronic systemic steroids, which can carry long‑term toxicity. Priovant…
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A Venture Fund that Leverages Patient Experts to Target Autoimmune Diseases
Veteran biotech investors Steven St. Peter and Luke Evnin launched Vie Ventures to bridge traditional venture capital with disease-focused philanthropy to target autoimmune and immune-mediated diseases. The fund partners with large patient organizations, such as the Lupus Research Alliance and...
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Navigating Your Child’s Rare Disease
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 atrophy. Since then, she has needed to learn how to manage the complexities of her own life while managing Miles’ care, coordinating his providers; and...
About this 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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