James R Lupski MDBaylor College of Medicine: Professor and Vice Chair, Department of Molecular and Human Genetics

Dr. James Lupski is vice chair professor of molecular and human genetics and pediatrics at Baylor College of Medicine in Houston. Lupski, also director of the Medical Scientist Training Program and American Editor of Neurogenetics, received his B.A. in 1979 and Ph.D. in 1984, both from New York University. He received his M.D. from New York School of Medicine in 1985. He went on to complete his postdoctoral work at New York University in 1986 and completed a residency in pediatrics and fellowship in medical genetics at Baylor College of Medicine.

Lupski’s research interests include determining the molecular mechanisms for disease using human genetic approaches to investigate clinical phenotypes. A major focus is the molecular genetics of Charcot-Marie-Tooth (CMT) disease and related inherited demyelinating peripheral neuropathies. Additional efforts are aimed at determining the molecular mechanism for contiguous gene syndromes. Other human genetic disease gene mapping research involves collaborative efforts with Dr. Richard A. Lewis to map rare, recessively inherited eye disorders. Lupski’s work has appeared in such publications as Science, Annals of Neurology and Nature Genetics.