Fireside Chat, Panel, Conference Presentation
Rewriting the Rules: Scaling Innovation for Rare Diseases | Global Conference 2026
Milken InstituteBecky Quick, Nicola Blackwood, David Fajgenbaum, Michael Hund, Neil Kumar, William H. Lewis
- Over 30 million people in the US and approximately 300 million people worldwide live with rare diseases, creating a massive unmet medical need that frequently intersects with personal family tragedies.
- David has committed his career to rare disease drug discovery following his mother's death from glioblastoma and his own life-threatening diagnosis with Castleman disease at age 19.
- David's survival and subsequent mission were catalyzed by discovering an off-label use for sirolimus, a drug originally intended for organ transplantation but available in local pharmacies.
- Will Osborn, diagnosed with Ehlers-Danlos syndrome after a 30-year "diagnostic odyssey," now chairs Genomics England to abolish diagnostic delays and enable early therapeutic intervention.
- Genomics England operates the NHS Genomics Medicine Service, utilizing whole genome sequencing to create a multimodal data platform connecting clinical diagnoses with rapid therapeutic development.
- The UK is currently trialing a national newborn sequencing program recruiting 46,000 families across 71 sites to diagnose conditions like SMA at birth, where treatment within the first 24 months is critical.
- Michael (EB Research Partnership) lost his oldest brother to a specialized form of Hodgkin's lymphoma that progressed to heart failure, a disease that now has a 95% cure rate due to recent advancements.
- The EB Research Partnership has transitioned from a traditional foundation to a "venture philanthropy" model, treating research projects like startups with up-front royalties to incentivize academic innovation.
- EB's "venture cure" model generated three FDA approvals in two years by investing early in companies like Crystal Biotech, which achieved a 3x return, and a Stanford gene therapy that yielded a 6x return.
- The global rare disease market is approaching $300 billion, yet half of recent FDA approvals involve rare disease designations despite the sector's historical underinvestment.
- Rare disease advocacy groups are successfully leveraging their financial leverage—often the only source of capital for specific diseases—to demand economic rights and faster collaboration from universities.
- Current regulatory frameworks, including the FDA, are criticized for requiring placebo-controlled trials that are inhumane for fatal pediatric diseases and taking an average of 15 years to approval.
- UK regulators (MHRA) have announced a new flexible, consultative rare disease program, while the US FDA is exploring adaptive trials to accelerate approvals for high-mortality conditions.
- The "Most Favored Nation" (MFN) proposal is identified as a critical barrier, potentially preventing US biotechs from launching medicines in Europe where prices are lower, thereby risking a loss of capital needed for R&D.
- Panelists argue that China's speed in developing "fast follower" drugs for rare conditions could dominate the global market if Western pricing models prevent international launches.
- David proposes extending patent life to incentivize the repurposing of existing generic drugs, estimating that a 5-year extension could yield 200 new treatments and a 20-year extension could yield 800.
- Every Cure, David's non-profit, utilizes AI to scan 4,000 drugs against 18,000 diseases, identifying repurposing opportunities like using DFMO (an African sleeping sickness drug) for the ultra-rare Bachman-Bopp syndrome.
- Every Cure currently runs 10 active programs, 9 of which involve generic drugs, having been funded by a $124 million investment from ARPA-H due to the lack of traditional market incentives.
- The concept of "active hope" is introduced as a shift from passive reliance on medical experts to proactive, data-driven efforts by patients and families to secure treatments.
- Michael announced a landmark collaboration with Stanford University and Nobel laureate Jennifer Doudna to run umbrella CRISPR trials for multiple monogenic rare diseases simultaneously.
- The FDA has granted permission for these umbrella trials, allowing a single CRISPR-LNP platform to be tested across different rare diseases to validate safety and efficacy at scale.
- Will emphasizes that patients possess unique, irreplaceable expertise and that their engagement is essential for designing effective clinical trials and de-risking the regulatory process.
- The panel concluded that the convergence of AI, data infrastructure, and patient-led advocacy is creating a "rising tide" capable of lifting all rare disease patients, provided economic and regulatory reforms occur.