Identifying regulatory mechanisms of human traits and disease

April 5, 2018 -
12:00pm to 1:00pm
Tim Reddy, PhD

Dr. Reddy research goal is to understand how genetic variation that alters gene regulation contributes to human disease. Strong evidence suggests that the majority of the heritability of complex human phenotypes is due to such regulatory variation. In cases where variation in gene regulation contributes to disease, major challenges persist in our ability to empirically or computationally identify the specific causal mutations; the regulatory mechanisms that they disrupt; and genes that are regulated. Overcoming those obstacles will greatly benefit society by revealing new opportunities for prediction and treatment of disease, and will provide deeper understanding into the types of variation upon which evolution acts on short time scales. To make progress on this problem, the Reddy lab develops and applies genome-wide approaches to define the regulatory state of human genomes in various cellular and environmental contexts. The Reddylab relies on close interplay between empirical, statistical, and computational researchers. The Reddy lab is particularly focused on (i) studying the response to glucocorticoids, a class of drug commonly used to treat inflammation and autoimmunity, and (ii) how non-coding genetic variation alters transcriptional regulation. To those ends, they have developed high-throughput strategies to measure the activity of human gene regulatory elements [e.g. (Vockely et al, 2016)].