Awarded in 2023
Home Department: Genetics
Faculty Advisors: William Greenleaf (Genetics), Jesse Engreitz (Genetics), and Polly Fordyce (Bioengineering, Genetics)

Research Title: Deciphering the Mechanisms of Non-Coding Genetic Variation in Enhancers

Research Description: Understanding the genetic architecture of human diseases remains an open problem in human genetics, a task made complicated by the fact that a) most diseases are caused by tens to thousands of different mutations spread across the genome and b) the majority of these variants reside outside of known protein-coding genes in regulatory sequences called enhancers. Ben proposes to combine single-molecule genomics, in vitro biochemistry, and high-throughput genome engineering to determine at scale how genetic variation in enhancers controls gene expression and ultimately mediates disease risk. This work will not only uncover basic principles determining how non-coding mutations can fine-tune enhancer function, it will also uncover the mechanisms behind previously identified disease-relevant polymorphisms.