Daniel J. Rader, MD

Dr. Rader is the Chair for the Department of Genetics, and the Chief for the Division of Translational Medicine and Human Genetics within the Department of Medicine, Associate Director for the Institute for Translational Medicine and Therapeutics (ITMAT), and Co-Director of the Penn Medicine Biobank. Dr. Rader has used human genetics and model systems to elucidate novel biological pathways in lipoprotein metabolism and atherosclerosis in his research. His lab discovered and characterized the enzyme endothelial lipase, demonstrated its effects on high density lipoproteins (HDL) in mice, and then found that loss-of-function mutations in the gene cause high levels of HDL in humans. He is among the world’s leaders in using both humans and model systems to dissect the functional genomics of human genetic variants associated with plasma lipid traits as well as coronary heart disease. He has had a long interest in Mendelian disorders of lipoprotein metabolism and has a strong translational interest in development of novel therapies for these disorders. He was involved in the identification of the molecular defect in a rare genetic disorder causing very low levels of low density lipoproteins (LDL), which spurred the development of inhibitors of this protein to reduce levels of LDL. Indeed, when one such drug was abandoned by a pharmaceutical firm, he went on to oversee its development for the orphan disease homozygous familial hypercholesterolemia (HoFH), characterized by extremely high levels of LDL and heart disease in childhood. This decade-long endeavor led to FDA and European approval of lomitapide, the first effective medication for the treatment of HoFH. He holds numerous distinctions and awards in the area of Translational Research, including from American Heart Association, the Burroughs Wellcome Fund and the Doris Duke Charitable Foundation. He has been elected to the American Society of Clinical Investigation, to the Association of American Physicians, and to the Institute of Medicine.