NIH R01 · 2025
Mapping, programming, and correcting gene regulatory sequences for Alagille Syndrome
PROJECT SUMMARY Regulatory DNA elements, including enhancers and promoters, encode multiple transcription factor binding sites (TFBS) that quantitatively tune gene expression in a cell-type specific fashion. Understanding and engineering regulatory DNA could unlock new therapeutic approaches — for example, to restore proper expression of a disease gene. Diseases of haploinsufficiency, such as Alagille Syndrome, are one example where such an approach could be transformative. Alagille Syndrome involves haploinsufficiency of JAG1, where improper dosage in vascular endothelial cells and smooth muscle cells leads to life-threatening complications including biliary atresia as well as right-sided…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.