NIH R01 · 2025
Mechanism-informed identification of causal enhancer variants
PROJECT SUMMARY Enhancers are the genomic elements that encode the instructions for the timing, location and levels of gene expression. The majority of variants leading to disease are thought to reside in enhancers. However, we do not understand which changes in enhancer sequence are inert variants and which impact gene regulation and cellular integrity. Identifying the causal variants underlying these changes is critical for understanding the mechanisms driving the disease, development of novel treatments, better diagnosis and stratification of patients for different treatment strategies. It is therefore critical that we identify the causal variants underlying enhanceropathies. However,…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.