RARECast

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610

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Aug 2026

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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

September 3, 202652 min

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 care, families may spend years managing feeding schedules, glucose checks, medications and hospitalizations. In some cases, children undergo life-altering pancreatic surgery that can create new medical challenges. Julie Raskin, CEO of Congenital Hyperinsulinism International, discusses how her family’s experience with the condition led her to build a global, patient-driven effort to advance new treatments, how the organization has forged partnerships with industry to do that, and how it is working to improve the lives of people living with the disease.

August 27, 202639 min

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 to block C1q, the initiator of the classical complement pathway. By inhibiting C1q early in GBS, Annexon believes it can interrupt the harmful inflammatory cascade before it causes further peripheral nerve damage. Doug Love, CEO of Annexon, discusses the biological role of the classical complement pathway in Guillain-Barré syndrome, the limitations of current nonspecific standards of care, and the company’s effort to bring a targeted monoclonal antibody designed to rapidly halt the inflammatory cascade in patients with this condition.

August 20, 202634 min

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 microneedle patch designed to deliver microdoses of the chemotherapy drug doxorubicin directly into basal cell carcinoma lesions. Raza Bokhari, CEO of Medicus Pharma, discusses the company’s approach to developing a localized, non-surgical treatment for people with Gorlin syndrome, how the patch is intended to induce tumor-cell death while limiting systemic exposure, and the platform’s potential applications beyond Gorlin syndrome.

August 13, 202630 min

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 go undiagnosed until life-threatening complications arise. The PERICLES project is an ambitious research initiative exploring prenatal gene editing to correct sickle cell disease before birth by targeting fetal blood-forming stem cells. Panicos Shangaris, a clinical senior lecturer and consultant in maternal and fetal medicine at King’s College London, discusses what daily life looks like for people living with sickle cell disease today, the limits of existing therapies, and why treating the condition in utero could offer families a one-time, potentially curative therapy to prevent the disease before symptoms appear.

August 6, 202637 min

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 Your Weakness campaign seeks to raise awareness of LONDs and the shared symptom patterns that too often go unrecognized. Myasthenia Gravis Association Executive Director Allison Foss and Director of the Neuromuscular Center at Cleveland Clinic John Morren discuss the everyday impact of conditions like myasthenia gravis, ALS, CIDP, and limb-girdle muscular dystrophies; why unexplained, progressive weakness deserves a closer look; and how a new clinical decision support tool can help primary care providers distinguish age-related changes from true neuromuscular red flags.

July 30, 202651 min

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 through acquisitions, its move into CRISPR gene editing and blood–brain barrier‑crossing enzyme platforms, and its broader vision of delivering meaningful quality‑of‑life improvements for people living with rare diseases.

July 23, 202636 min

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 not access the drug because a Swedish health technology assessment council determined there was insufficient data to demonstrate that the costly therapy provides a clear benefit. Instead, they are working to raise funds to purchase the drug in Germany, while Tom has also enrolled in a clinical trial in hopes of accessing a potentially beneficial therapy. The Sayiners discuss the gap between regulatory approval and real-world access in Sweden, the steps they have taken to explore cross-border care; and how geography, cost, and policy can be as life-limiting as the disease itself.

July 16, 202636 min

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 depleting pathogenic B cells, followed by repopulation with naïve, non-pathogenic B cells and normalization of T-cell function and cytokine profiles. This approach has the potential to enable durable remissions and discontinuation of background immunosuppressive therapies after a single infusion. The company’s pipeline is focused on neuroimmunology, with lead programs in generalized myasthenia gravis and stiff person syndrome. Warner Biddle, CEO of Kyverna Therapeutics, discusses the company’s B cell–targeting cell therapy platform, the range of autoimmune diseases it aims to address, and its next-generation therapies in development.

July 9, 202635 min

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 in a New York Times op-ed, arguing that CRISPR-based base editors—delivered via lipid nanoparticles as mRNA molecular surgery payloads—could be generalized to thousands of monogenic disorders. He further explains that realizing this promise will be constrained less by scientific limitations than by regulatory, manufacturing, and reimbursement challenges. Coller also outlines what it will take to make bespoke therapies economically and operationally viable, and argues that failure to scale this approach would reflect not a failure of science, but of imagination.

July 2, 202638 min

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 putting a name to a disease—which can reduce unnecessary care and emotional distress—arrives late, if at all. Sunstone Health is seeking to industrialize the path to answers by using AI to scan claims data for patterns that flag likely genetic disease, recruiting high-risk families, and fast-tracking whole-genome sequencing through a top clinical lab. Sunstone Health founder Joshua Resnikoff discusses how his son’s rare disease diagnostic odyssey gave rise to the company, how Sunstone is working to transform the path to a diagnosis, and its business model of relying on the savings it delivers to self-funded employers.