Award
National Eye Institute 5R01EY036065-03
Understanding ABCA4 Variants of Unknown Significance Through Computational and Functional Approaches
Recipient
University of Delaware
Award Amount
$460,197.00
Ceiling
$460,197.00
Awarded
June 26, 2026
Identifier
5R01EY036065-03
The award funds research to understand the clinical impact of unknown ABCA4 gene variants causing inherited retinal degenerations, using computational and functional methods to improve disease prediction and therapy development.
Description
This project aims to unravel the clinical significance of ABCA4 genetic variants of unknown significance (VUS) using in silico and in vitro functional analyses in combination. The study assembles a team with expertise in protein biochemistry, computational biology, bioimaging, and biostatistics to create a sequence-structure-function workflow to predict disease severity and clinical pathogenicity of ABCA4 variants. The project also incorporates Diversity, Equity, Inclusion, and Accessibility (DEIA) initiatives and training opportunities.