Sekar Kathiresan, a clinical cardiologist and human geneticist, is the director of preventive cardiology at Massachusetts General Hospital and a genetics researcher in the Broad Institute’s Program in Medical and Population Genetics. Kathiresan seeks to discover the genes responsible for inter-individual differences in risk for heart attack and use this information to understand biological mechanisms and to improve preventive cardiac care.
Kathiresan’s scientific contributions have been six-fold. First, through genetic studies in populations, he and collaborators have discovered 45 gene regions related to risk for heart attack and 157 gene regions related to risk factors including blood cholesterol and triglycerides. Second, at the sortilin locus for low-density lipoprotein (LDL) cholesterol and heart attack risk, he used cellular and mouse models to define the causal variant, gene, and mechanism responsible for the plasma lipid change. Third, he described a new Mendelian syndrome, familial combined hypolipidemia, which is characterized by extremely low levels of plasma lipids, and identified ANGPTL3 as the responsible gene. Fourth, Kathiresan defined a panel of gene variants that can be used to assess future risk for heart attack. Fifth, he has utilized gene variants to show that some means of raising high-density lipoprotein cholesterol may not lower risk for MI. Finally, he has utilized gene variants to show that beyond LDL cholesterol, plasma triglyceride-rich lipoproteins likely represent causal factors for heart attack and discovered that protein-disruptive mutations in the APOC3 gene protect against risk for heart attack.
Kathiresan is the current director of preventive cardiology at the Massachusetts General Hospital (MGH) Heart Center and an associate professor of medicine at Harvard Medical School. He received his B.A. in history and graduated summa cum laude from the University of Pennsylvania in 1992. He received his M.D. from Harvard Medical School in 1997. Kathiresan completed his clinical training in internal medicine and cardiology at MGH. He served as Chief Resident in Internal Medicine at MGH in 2002-2003. Kathiresan pursued research training in cardiovascular genetics through a combined experience at the Framingham Heart Study and the Broad Institute of MIT and Harvard. In 2008, he joined the research faculties of the MGH Cardiovascular Research Center and the MGH Center for Human Genetic Research.Last updated date: June 2015