NIH R01 · 2025
Identifying regulatory uORFs as a targetable axis for hereditary disease
Abstract The aim of this grant is to identify and validate for therapeutic intervention, regulatory elements within the 5’ untranslated regions (UTR) of protein coding genes, known as upstream open reading frames (uORFs). In so doing, we aim to modulate the protein output from selected genes, offering a novel, translational approach with broad potential. To achieve the goals of our integrative MultiPI R01, we will leverage the expertise of both our labs spanning computational modeling, genomics, genetics, RNA biology and molecular biology. In Aim 1 we will combine large genomic and genetic datasets including gnomAD, the PennMedicine BioBank, and the UKBioBank to systematically identify…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.