NIH R01 · 2024
Improving the throughput of diagnosis and treatment of inherited diseases of the retina
Project Summary/Abstract Despite advances in genetic testing for inherited retinal degenerations (IRDs), detection of a DNA variant of unknown significance (VUS) can prevent a patient from receiving a genetic diagnosis. The long-term goal of the proposed research is to address this problem using cell-based assays that can efficiently identify which DNA variants are disease-causing mutations and which are benign polymorphisms, at a scale that would produce medically-actionable information. IRDs are important causes of vision loss, and are increasingly treatable by gene-specific therapies such as gene augmentation therapy. While an accurate genetic diagnosis is critical before administering a…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.