FOUNDATION FIGHTING BLINDNESS

Foundation Fighting Blindness, in partnership with ARPA-H, aims to achieve vision recovery through six whole eye transplants in humans by 2030, with a $46 million grant supporting a multi-disciplinary consortium led by the University of Colorado Anschutz Medical Campus.

Esther Biswas-Fiss, UD professor, received $2.3 million from NIH/NEI to study ABCA4 gene variants, aiming to understand inherited retinal diseases like Stargardt. Her interdisciplinary team uses AI and 3D modeling to classify genetic variants, potentially leading to personalized medicine and clinical trial eligibility.

The Foundation Fighting Blindness, funded by the Usher III Initiative, is conducting a natural history study on Usher syndrome type 3 (USH3) caused by the N48K mutation of the CLRN1 gene. This study aims to identify potential patients for future clinical trials, understand disease progression, and optimize clinical trial designs for therapies. The 4-year study will involve up to 20 patients as part of the broader Uni-Rare natural history study, which aims to enroll up to 1,500 patients with inherited retinal diseases (IRD) across multiple sites globally.