Small populations, big impact: leveraging rare disease gene therapies to benefit millions

Abstract

GLP-1) endogenously (17). Our own work illustrates how discoveries in rare disease research can reshape therapeutic paradigms for other diseases. Our initial research program on cystinosis, a rare devastating multisystem disorder, demonstrated the therapeutic potential of autologous HSC gene therapy for diseases caused by nonsecreted lysosomal trans-membrane proteins, with early clinical studies showing encouraging safety and efficacy outcomes (18