“Genetics of Blood Clotting: From Bedside to Bench and Back Again”

This lecture will review research conducted by David Ginsburg's lab, particularly focusing on the connection between studies of human diseases (the bedside) and basic laboratory research (the bench). The Ginsburg lab has a longstanding interest in the genetics of inherited bleeding and blood clotting disorders and the structure and function of blood coagulation proteins, including von Willebrand factor (von Willebrand disease), ADAMTS13 (Thrombotic Thrombocytopenic Purpura (TTP)), and PAI-1 (PAI-1 deficiency). Our discovery of the molecular basis for combined deficiency of blood clotting factors V and VIII took us from the “bedside” to the “bench” to further explore the regulation of protein transport from the endoplasmic reticulum to the Golgi, leading to new insights into the pathogenesis of heart and blood diseases, including the control of cholesterol levels.