STEPHEN J. TAPSCOTT, MD, PhD
Dr. Stephen Tapscott is a Professor in the Human Biology and Clinical Research Divisions of the Fred Hutchinson Cancer Center and a Professor of Neurology at the University of Washington.
He completed his MD and PhD degrees at the University of Pennsylvania where he also completed medical internship and neurology residency. His graduate studies with Dr. Howard Holtzer were among the first to use intermediate filament proteins as markers of lineage specification and differentiation. His postdoctoral work at the Fred Hutchinson Cancer Research Center with Dr. Harold Weintraub and early independent studies identified the mechanisms of lineage specification and differentiation using the myogenic and neurogenic determination genes of the MyoD and NeuroD gene families.
His research career includes contributions to the molecular mechanisms of myotonic dystrophy, Huntington’s disease, and the early recognition of the need to regulate the immune response in AAV gene therapies for Duchenne muscular dystrophy. Together with a broad range of collaborators, his group confirmed the role of DUX4 as the cause of facioscapulohumeral dystrophy (FSHD), the identity of SMCHD1 as the major cause of FSHD2, the molecular consequences of DUX4 expression in skeletal muscle, the role of DUX4 in the early embryo and its expression in the germline and other tissues, and established correlations between MRI characteristics and disease activity in FSHD muscle, as well as identified several candidate therapeutics for FSHD.