The application of the power of molecular genetics to the problems of human disease plays an important role in many of the research programs in the Department of Biology. The range of disease areas which are actively studied includes cancer, atherosclerosis and heart disease, neuromuscular diseases, as well as diseases affecting many other specific organ systems.

Several complementary approaches are used by our research groups. The power of genomic analysis is used to identify, isolate and characterize genes which cause and contribute to the etiology of human diseases. Human disease is also studied through the functional analysis of key genes: low density lipoprotein receptors in atherosclerosis and stroke; a broad spectrum of tumor suppressors and oncogenes in cancer, genes directly leading to the disease etiology in neuromuscular disorders such as Alzheimer's, Huntington's disease and muscular dystrophies.

The mechanisms of underlying genetic causes of developmental defects are studied through the close comparison of human genetic pathways and those in model organisms, particularly the mouse. The study of defects in sexual development in humans and mice is a particularly clear example of this approach to the problem. Assay systems using cells from affected patients provide a powerful approach to a broad range of studies on gene-function-pathology relationships for the spectrum of diseases under study.

Faculty with research programs in molecular medicine and human disease: