NIH R01 · 2025
Genetics of early onset retinal diseases
Abstract The goal of this project is to improve the molecular diagnosis rate and better understand the molecular mechanisms of early onset cone inherited retinal degeneration (eocIRD) diseases. As human heavily relies on cone vision for the activities, degeneration of cone photoreceptors has significant impact on their ability to perform daily routine. Unfortunately, the current molecular diagnosis rate of eocIRD, such as cone rod dystrophy (COD) and cone rod dystrophy (CRD), is significantly lower that of rod degeneration IRDs such as retinitis pigmentosa. More than 50% COD and CRD remain unassigned even upon screening of all IRD associated genes, highlighting a significant gap in our…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.