Award
National Eye Institute 5R01EY035717-03
Finding Missing Genetic Causality of Inherited Retinal Degenerations
Recipient
Massachusetts Eye and Ear Infirmary, Boston, MA, United States
Award Amount
$684,891.00
Ceiling
$684,891.00
Awarded
June 01, 2026
Identifier
5R01EY035717-03
This NIH-funded research project focuses on identifying genetic causes of inherited retinal degenerations through advanced genetic assays and genome sequencing, aiming to improve diagnosis and treatment options.
Description
The project aims to improve identification of genetic causes of inherited retinal degenerations by investigating variants leading to aberrant pre-mRNA splicing and structural genomic rearrangements. This will enhance genetic diagnoses, clinical care, and opportunities for clinical trials and treatments.