Jan Friedman

Medical Genetics


My research bridges clinical genetics and basic science. Our lab’s work is focused in three major areas: (1) application of advanced genomic technology to identifying the causes of intellectual disability; (2) using genetic epidemiology to elucidate the pathogenesis of neurofibromatosis 1 and 2; and (3) development of a knowledge base on human teratogenic risks resulting from maternal treatment with various medications during pregnancy. I am also interested in the societal implications of genetics and am collaborating in several projects studying various social, economic, and ethical aspects of clinical application of new genomic technology.