Rare Diseases

Scripps Research scientists helped establish that macular telangiectasia type 2 (MacTel), long misunderstood as a vascular condition, is a neurodegenerative disease caused by the death of photoreceptors and supporting retinal cells. That foundational insight paved the way for ENCELTO™, a cell-based implant approved by the FDA in 2025 to slow vision loss in MacTel. This platform is now being evaluated for additional retinal and neurovascular conditions, while parallel programs map the brain cell types and genetic pathways driving a wider range of rare neurological diseases.

Calibr-Skaggs’ ReFRAME library, one of the world’s largest collections of drugs already approved or tested in humans, is being deployed for rare blood diseases that disproportionately affect patients in under-resourced settings. High-throughput screening of the ReFRAME collection has identified more than 100 candidate anti-sickling compounds for sickle cell disease. Because these compounds have established safety profiles, the most promising candidates could potentially move to clinical trials faster and more efficiently, expanding the prospect of affordable oral therapies for the millions of patients worldwide who cannot access gene therapy or stem cell transplantation.

Professors Jeffery Kelly and Evan Powers developed the FDA-approved drug tafamidis, a small molecule drug for transthyretin amyloid cardiomyopathy (ATTR-CM), a rare, progressive form of heart failure caused by misfolded proteins accumulating in the heart. Prior to the medicine, there was no approved treatment, and most patients survived fewer than five years after diagnosis.