Dr. Rafal Holubowicz from University of California Awarded $90,000 Knights Templar Eye Foundation Grant for Gene Based Vision Restoration Research

Dr. Rafal Holubowicz from the University of California, Irvine was awarded a $90,000 grant for his research entitled: Restoration of MFRP rd6 mutation using prime editor ribonucleoprotein delivery.

Genetic mutations are a leading cause of vision loss in young people. Although scientists are working hard to understand why and how it happens, addressing early onset blindness with conventional drugs has been unsuccessful, and low-vision aids often remain the only option for those who will inevitably become blind. Gene therapy provides hope, as some forms of Leber congenital amaurosis (LCA) are treatable by delivering a correct form of the damaged gene; however, only a fraction of the patients can benefit from this therapy, and the damaged gene remains in place along with the new copy. CRISPR-Cas technology, for which a Nobel prize was awarded in 2020, provides tools that have the potential to cure vision by converting mutated genes into their healthy versions.

Dr. Holubowicz has shown that base editing, a DNA-modifying tool, enables vision to be restored in a mouse model of LCA, and he is refining it for use in humans. However, many mutations remain out of reach of base editing. Prime editing, a next generation tool, writes new DNA, allowing for repair of extensive regions that may contain several mutations; thus, it is more versatile than base editing, which modifies only very localized regions of DNA. Therefore, prime editing could repair almost all known blinding mutations. In this project, Dr. Holubowicz is working towards delivery of a prime editor as a purified protein-RNA complex to accomplish precise and efficient repair of a blindness-causing mutant gene. His approach will facilitate the development of therapies that would restore vision after single administration.