We study functional non-coding variants (FNCVs)

Welcome to our lab. We study genomic mechanisms of human disease.

We study transcriptional regulation, one of the uses of the word ‘epigenetics’.

We initially thought that all variation in transcriptional regulation between individuals would be attributable to reprogramming of transcriptional regulators. Now we recognise differences between individuals to be due to cell subtype differences, and a major influence from DNA sequence differences.

We now study DNA sequence variation in the non-coding 98.8% of the human genome and how these differences influence transcriptional regulators, identifying functional non-coding variants (FNCVs).

We study cells in a tissue, the fates that created them, and reprogramming of their functions.

We are interested in how influences on transcriptional regulation confer disease risk by altering cell fates, and changing tissue composition, a mechanism we describe as ‘polycreodism’

We study how genetic ancestry influences disease risk, and how this intersects with social determinants of health and health care provision.

We study rare diseases, and how the insights above allow us to understand why the rare disease occurred in an individual or family.

Our goal is to improve human health, with a focus on the communities of The Bronx and New York City.