Kelly A Frazer, Ph D
Dr. Frazer is an internationally renowned leader in the field of genome biology and medicine. She is the director of UC San Diego Institute for Genomic Medicine and founding chief of the Division of Genome Information Sciences in the Department of Pediatrics at UC San Diego.
A large part of our lab is involved in the CardiPS study. This multi-PI study is funded through the NHLBI and seeks to link cardiac phenotypes to genotypes through the generation of iPSC-derived cardiomyocytes from skin fibroblasts collected from a cohort of 270 individuals. Our cohort consists of normal healthy individuals as well as individuals with cardiovascular diseases such as long QT and left ventricular hypertrophy. With these samples we hope to identify inherited coding and regulatory variants that influence the manifestation of cardiovascular disease and adverse drug reactions.
We collaborate with Dr. John-Bjarne Hansen at the University of Tromso to study the genetic underpinnings of Venous Thrombosis Embolism (VTE). This multi-PI study is funded through the K.G. Jebsen Medical Foundation to analyze the Tromso cohort, which is comprised of individuals who have been clinically followed for several decades. Our lab has sequenced thousands of individuals in the Tromso cohort and we are now analyzing these data to identify genetic associations with VTE.
Type I Diabetes
A large part of our lab is involved in a NIDDK multi-PI study funded to link pancreatic beta cell phenotypes to genotypes through the generation of iPSC-derived pancreatic progenitors. We will derive pancreatic progenitors from 100 human induced pluripotent stem cell lines (hiPSCs) and generate ATAC-seq, H3K27ac ChIP-seq, RNA-seq, DNA methylation and Hi-C chromatin conformation data, and combine with similar available datasets from human islets. We propose that the causal variant(s) within a T1D locus will likely be associated with more than one molecular phenotype QTL. These analyses will provide a comprehensive understanding of how T1D-risk signals alter gene regulation and local chromatin states in islets and their precursors.