The 2004 ASCI Award: David Ginsburg, MD
David Ginsburg, MD, received the 2004 ASCI Award in recognition of his contributions to the understanding of the molecular basis of physiologic and pathologic thrombosis and hemostasis, and for his education and mentorship of future researchers and clinicians.
Early in his career, Dr. Ginsburg cloned the von Willebrand factor gene and began to define the molecular genetic basis for von Willebrand disease, the most common inherited bleeding disorder in humans. Studies of von Willebrand factor variation led to the identification of a genetic alteration in glycosyltransferase function in the mouse, one of the few successful definitions of a genetic modifier, with potentially broad implications for a variety of human disorders. The Ginsburg laboratory also cloned and characterized the gene for plasminogen activator-inhibitor (PAI-1) and defined a number of critical functional domains within the corresponding protein. Analyses of PAI-1 deficiency in disease models have defined important roles for this molecule in a number of disease processes, including the progression of atherosclerosis.
Most recently the Ginsburg laboratory has discovered mutations in the LMAN1 and MCFD2 genes as the cause of the human bleeding disorder combined deficiency of coagulation factors V and VIII, uncovering a novel pathway for the transport of selected proteins from the ER to Golgi. The lab also recently identified a novel member of the ADAMTS gene family that cause human thrombotic thrombocytopenic purpura, an enigmatic coagulopathy associated with considerable morbidity and mortality.
Dr. Ginsburg is currently James V. Neel Distinguished University Professor of Internal Medicine and Human Genetics and a Research Professor with the Life Sciences Institute at the University of Michigan, as well as an investigator of the Howard Hughes Medical Institute. He received his B.A. from Yale University in Molecular Biophysics and Biochemistry, and his M.D. (in 1977) from Duke University Medical School.