Since the late 1990's, Bascom Palmer's clinicians and scientists have been in the forefront of gene therapy, contributing to research studies and leading clinical trials to stabilize or restore vision in adult and pediatric patients. Today, the Institute has one of the largest gene therapy programs in the nation with additional clinical trials and studies coming soon. In the past decade, Bascom Palmer has built an extensive gene therapy program that includes ophthalmologists and research scientists studying various forms of inherited eye diseases. Inherited retinal diseases (IRDs) are a heterogenous group of visually debilitating diseases caused by pathogenic variation in proteins critical to retinal function. The majority of IRDs are characterized by progressive retinal degeneration with significant visual impairment starting at a young age leading to blindness and life-long disability.

Collectively, IRDs are estimated to affect more 150,000 persons in the US and more than 2 million persons worldwide. Over 300 genes with wide scope of genetic variants are associated with IRDs.

The continued improvement of understanding of the pathophysiologic mechanisms of IRDs led to the first FDA-approved ocular gene therapy in 2017. This breakthrough treatment targets RPE65-asscoiated IRD and provides hope of treatments for other IRDs. Treatment strategies being utilized in IRD clinical trials include gene replacement, RNA antisense oligonucleotide, optogenetics, gene editing, oral agents, and stem cells.

The Daily Center for Inherited Retinal Disease facilitates treatments toward FDA approval by advancing translational research. The Center focuses on promising treatments that are IND enabling leading to human clinical trials. Bascom Palmer Eye Institute has conducted robust National Eye Institute and industry supported inherited retinal diseases research for over 20 years.

The history of this research includes a number of firsts around the nation and has established a leading center where research translated to clinical care and education is a resource for healthcare providers, medical students, and patients.

Achievements

• Genes responsible for inherited diseases have been identified
• Biomarkers associated with mutations have been identified
• Transgenic mice have been developed to analyze degeneration within the layers of the retina
• Potential treatments for inherited retinal degenerations have been developed
• Retinal imaging has been improved
• Clinical gene therapies have been administered for a spectrum of inherited retinal diseases