Kelley Frazer

Professor, Pediatrics, UC San Diego

Kelley Frazer is a professor in the Department of Pediatrics at UCSD School of Medicine, Chief of the Division of Genome Information Sciences and the Director of UC San Diego’s Institute for Genomic Medicine (IGM). Dr. Frazer is an internationally renowned leader in the field of genome biology and medicine. The goal of her research is to understand genetic predisposition to complex diseases starting in childhood but spanning the whole age spectrum. A large part of her lab is involved in a NHLBI multi-PI study funded to link cardiac phenotypes to genotypes through the generation of iPSC-derived cardiomyocytes from a cohort of 270 individuals. Their cohort consists of normal healthy individuals as well as individuals with cardiovascular diseases such as long QT and left ventricular hypertrophy. With these samples they hope to identify inherited coding and regulatory variants that influence the manifestation of cardiovascular disease and adverse drug reactions. Her laboratory also has a long-standing international collaboration with faculty at the University of Tromso to study the genetic underpinnings of Venous Thrombosis Embolism (VTE). This multi-PI study is funded to analyze individuals in the Tromso Study, which is comprised of individuals who have been clinically followed for several decades. The lab has sequenced thousands of individuals in the Tromso cohort and we are now analyzing these data. Additionally, they are taking advantage of data generated and made publicly available through large consortia such as The Cancer Genome Atlas (TCGA) to study a variety of cancer types including chronic lymphocytic leukemia (CLL), ovarian and breast. They use innovative bioinformatics and computational approaches to identify and understand the role of inherited variants and somatic mutations in tumor carcinogenesis and tumor progression. The goal of all of their projects is to identify novel therapeutic targets and improve disease classification.