Many human genetic diseases involve multiple causal loci in noncoding regions of the genome, implicating mutations in regulatory elements rather than protein-coding genes as the cause of these diseases. Deciphering the etiology of these human genetic diseases requires an understanding of how genes are regulated to develop and maintain functional cell states. This regulation is encoded both through chromatin state, and genetically encoded in the DNA sequence of regulatory elements such as enhancers, promoters, silencers, and insulators. However, these regulatory elements and their activity states in human cells are not fully resolvable with current technologies.

As aberrant gene regulation likely underlies many human diseases, understanding the function of regulatory DNA elements and their activity dynamics during healthy human development are essential. My research aims to: (i) develop new experimental methods to profile multimodal chromatin state in single cells; (ii) identify alterations in regulatory element activation states that guide cell fate choice during development; (iii) identify the DNA sequence features important for regulatory element function; (iv) build community tools and resources for the analysis of single-cell chromatin data.

I am supported by a K99/R00 from the National Human Genome Research Institute (1K99HG011489).