RARECast

For people living with primary biliary cholangitis (PBC), the burden of disease can extend far beyond the liver. Debilitating fatigue, relentless itching, and other often-invisible symptoms can disrupt work, relationships, and daily routines, while misconceptions about liver disease add stigma to an already difficult experience. We spoke with Carol Roberts, president of the PBCers Organization, discusses her own experience with this rare autoimmune condition, what a recent patient survey reveals about its day-to-day toll, and how an evolving treatment landscape is changing expectations for care.

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 later severe psychiatric symptoms. For Busch, a nurse, raising him meant navigating healthcare and school systems while repeatedly questioning whether she was making the right choices. Busch, author of the 2013 Yearning for Normal, reflects on her son’s life, the isolation and self-doubt of caregiving, and what it means to love and support a child whose life doesn’t follow the path a parent imagined.

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 that patients and caregivers can provide. Probably Genetic is addressing these gaps through a direct-to-patient platform that connects eligible patients with genetic testing and counseling while assembling clinical, genetic, and patient-reported data for research. Lukas Lange, co-founder and CEO of Probably Genetic, discusses the company’s approach, its ARPA-H-supported Project Rosetta, and how richer patient data could help shorten the diagnostic journey and lay the groundwork for new treatments.

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 recommend. Infinitus seeks to close that gap with an AI platform that automates conversations and coordinates information among patients, providers, pharmacies, insurers, and drugmakers—from benefits verification and prior authorization to treatment updates and ongoing patient support. Ankit Jain, co-founder and CEO of Infinitus, discusses how his daughter’s rare disease exposed the obstacles families face, how the company’s AI agents work to reduce delays, and where human judgment and connection must remain central to care.

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 around restoring the function of regulatory T cells. Its experimental therapy, COYA 302, combines the cytokine IL-2 with CTLA4-Ig, a fusion protein that dampens inflammatory myeloid-cell activity. Arun Swaminathan, CEO of Coya, discusses how dysfunctional regulatory T cells contribute to neuroinflammation and neuronal damage in ALS, why the company is targeting them as a driver of disease progression, and the case for its dual immunomodulatory approach.