Dr. Egle Galdikaite-Braziene from Harvard Medical School Awarded $90,000 Knights Templar Eye Foundation Grant for Eyes Shut Drosophila Homolog-Associated Retinal Degeneration Research

Dr. Egle Galdikaite-Braziene from Massachusetts Eye and Ear, Ocular Genomics Institute, Harvard Medical School located in Boston, Massachusetts was awarded a $90,000 grant for the research entitled: Functional analysis of truncated EYS proteins in a mutant zebrafish model and development of a trans-splicing-based strategy for EYS delivery.

EYS is a crucial gene associated with a type of inherited eye disease called Eyes Shut Drosophila homolog-associated retinal degeneration (EYS-RD), which can lead to vision loss starting at childhood and adolescence. It is affecting a considerable number of people, especially in Asia, Europe and North America. However, developing effective treatments for EYS-related diseases has been challenging due to the gene’s large size and the lack of expression in common animal models like rodents.

To address these challenges, researchers are using zebrafish, a unique animal model, and exploring a strategy called exon skipping, inspired by successful treatments for Duchenne muscular dystrophy. Additionally, they are investigating gene augmentation therapy, a method using viral vectors, which shows promise for a variety of EYS mutations. A particularly innovative technique called REVeRT, based on mRNA trans-splicing, allows the packaging of full-size and truncated versions of the EYS gene in dual vectors, overcoming size limitations.

The study aims to understand how shortened EYS proteins function in a zebrafish model with EYS-related mutations and to develop a method for delivering the EYS gene using dual vectors. These efforts could lead to gene therapy treatments for EYS related retinal diseases, addressing challenges linked to gene size and model limitations and contributing to advancements in understanding and treating these conditions.