Treatment of CEP290-associated retinal degeneration (NEI R21)
Amount
Not specified
Deadline✓ Verified
Aug 31, 2028
Funder
National Eye Institute
Eligible
open to all
About This Grant
ABSTRACT Mutations in the CEP290 gene are a leading cause of Leber congenital amaurosis (LCA), a hereditary retinal dystrophy that results in severe vision loss during infancy or early childhood. While gene augmentation therapy using adeno-associated virus (AAV) vectors has shown promise in treating inherited retinal degenerations, CEP290-LCA presents significant challenges due to the gene’s large size and the diverse mutations distributed throughout the gene. Existing gene therapy approaches for CEP290-LCA have targeted specific mutations and/or achieved limited success in restoring CEP290 gene function. The proposed study aims to overcome these limitations and develop mutation-independent, generic CEP290 gene therapy vectors. We have pioneered an innovative strategy that employs up to four AAV vectors in conjunction with a unidirectional DNA recombination system to deliver and reconstitute large genes. Using this approach, we have successfully engineered tripartite AAV-CEP290 vectors
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