Why 95% of Rare Diseases Still Have No Treatment

About 90–95% of rare diseases still lack an FDA-approved treatment, underscoring the urgency for continued innovation on behalf of the estimated 30 million Americans — and families — affected by these conditionsDuring Rare Disease Week, this special episode of the Making Medicine podcast focuses on the patients, caregivers, and policy choices shaping the future of rare disease research. Host John Stanford is joined by Lisa Schlager (FORCE), Elaine Towle (Prader-Willi Syndrome Association), and Josh Trent (Save Rare Treatments Task Force) for a thoughtful discussion on the scientific, financial, and regulatory realities of developing therapies for small patient populations.The conversation explores how federal incentives, reimbursement frameworks, and regulatory clarity can influence whether promising treatments move forward, as well as the broader ripple effects rare diseases have on families and support networks. The panel also reflects on ongoing policy discussions, including proposals such as Most Favored Nation (MFN) drug pricing, and how stakeholders are evaluating their potential impact on future innovation.Progress in rare diseases depends on sustained collaboration among patients, advocates, researchers, investors, and policymakers. This episode highlights both the scale of unmet need and the growing momentum to deliver new treatments and hope to millions of Americans.Do you believe the Orphan Cures Act went far enough to protect rare disease research?Should the Pediatric Priority Review Voucher program be made permanent?What rare disease policy reform should Congress address next?If you're new to the Making Medicine Podcast, we're happy you'rehere! Follow us for more:https://x.com/MakingMedPodhttps://www.instagram.com/makingmedicinepod/https://www.linkedin.com/showcase/making-medicine-podcast/about/?viewAsMember=trueTimestamps:0:00 Rare Disease Week and disclaimer0:43 Rare disease innovation, 30 million Americans2:46 Hereditary cancer and rare genetic subtypes7:36 Prader-Willi syndrome, hyperphagia and hypothalamus11:14 First Prader-Willi FDA approval and Phase 3 pipeline12:54 FDA patient focused drug development meetings14:39 Save Rare Treatments Task Force and advocacy strategy17:20 95% lack FDA treatments and pediatric rare disease stakes21:05 Orphan Cures Act, IRA negotiation, second indications26:17 PARP inhibitors, ovarian cancer and pancreatic cancer33:01 Rare disease investment rebound after Orphan Cures Act37:36 Pediatric PRV reauthorization and faster FDA reviewDISCLAIMER: We’re reporting on the headlines, not making medical recommendations. For personal health questions, always consult a doctor.