NIH R01 · 2025
Non-Coding Genetic Vulnerabilities in Human Photoreceptor Function and Disease
PROJECT SUMMARY/ABSTRACT Cis-regulatory elements (CREs) are critical sites within the non-coding genome that orchestrate the expression of genes necessary for normal cellular function. Mutations within CREs contribute to human diseases including disorders of vision. Over the past funding period, our group identified and characterized CREs in the adult and developing retina using single-cell, epigenomic, machine learning, and genetic approaches and used these data to elucidate genetic causes of unsolved visual disorders. Despite this progress, the function of most of retinal CREs and the features that define essential CREs remain unknown. This gap in knowledge is a significant obstacle…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.