NIH R01 · 2024
Molecular Basis of Human Visual System Disorders
Abstract The primary objective of this proposal is to enhance the molecular diagnosis rate and deepen our understanding of the molecular mechanisms underlying Retinitis Pigmentosa (RP). RP, the most prevalent form of retinal degeneration, affects 1 in 3,000 people worldwide. The genetics and pathways responsible for the disease are highly heterogeneous. Currently, approximately 25% of cases remain unexplained upon molecular mutation screen, representing one of the most significant gaps in our current knowledge of the disease. To address this challenge, we propose to systematically identify novel mutant alleles and genes that are overlooked by the current screening process through a…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.