Award
National Eye Institute (NEI), National Human Genome Research Institute (NHGRI) 1R21EY038987-01
Scaling Strategies to Assess Pathogenicity of Variants of Uncertain Significance
Recipient
Washington University
Award Amount
$427,625.00
Ceiling
$427,625.00
Awarded
September 11, 2025
Identifier
1R21EY038987-01
A research project funded to develop scalable experimental and computational methods to interpret genetic variants and improve diagnosis and treatment of genetic disorders, focusing on genes involved in retinal development and the Sonic Hedgehog pathway.
Description
This project will utilize Deep Mutational Scanning (DMS) combined with SortSeq to assess variants in the GLI2 gene involved in the Sonic Hedgehog (SHH) pathway, and extend this approach to other genes such as CRX and OTX2 involved in retinal development. The work includes developing computational pipelines to predict effects of variants in disordered regions of proteins, aiming to create scalable strategies for gene diagnostics.