NIH R01 · 2025
Finding Missing Genetic Causality of Inherited Retinal Degenerations
Project Summary/Abstract Understanding the functional consequences of rare variants of unknown significance (VUSs) is a major challenge in the field of human genetics and it is critical in genetic diagnostic testing in all fields of genomic medicine, including cancer, cardiology and all rare diseases. It affects the choice of adequate treatments, preventive measures, prognostics, and family planning. In this proposal we will study inherited retinal degenerations (IRDs) as a model of a rare disease in which the lack of definitive interpretation of VUSs greatly reduces genetic diagnostics, prognostics and access to the emerging genetic treatments. IRDs are important monogenic blinding…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.