Stephen S. Rich
- PhD, Genetics, Purdue University
Our research involves the integration of human genetic epidemiology, molecular genetics and computational biology, with a focus on the genetic basis of type 1 diabetes and its complications as well as cardiovascular disease and its risk factors. In our work on type 1 diabetes, we have identified ~90% of the genetic risk (that accounts for one-half of the total risk) through genome-wide association studies, fine-mapping and targeted genomic studies. We are now using a combination of transcription (RNA-seq) and epigenomic profiling (ATAC-seq) to prioritize genetic variants that can be edited (CRISPR/Cas9) to determine their impact on function and disease risk. Our focus on cardiovascular disease utilizes the Multi-Ethnic Study of Atherosclerosis (MESA), a longitudinal cohort study, to characterize the joint effects of genetics (through whole genome sequencing), transcriptomics (RNA-seq), DNA methylation, plasma metabolomics and proteomic signature to define relationships of risk and discover new risk factors that can be targeted for intervention.