The Neuromuscular Disease Foundation
is pleased to present a live presentation and question & answer session:
"Development Of A Potency Assay And Disease Model For GNE Myopathy"
presented by:
Dr. Paul Martin began his science training by obtaining a BA from Oberlin College, where he studied violin and majored in Chemistry, with highest honors. He went on to receive a PhD in Biochemistry from the University of California, Berkeley, and then started studying muscle as a postdoctoral fellow with Joshua Sanes at Washington University Medical School. It was there that Paul became interested in understanding functional roles for cell surface glycans, an interest that has carried throughout his research career. He began his own lab as an Assistant, and then Associate Professor of Neurosciences, with tenure, at the University of California, San Diego. While at UCSD, the Martin lab identified specific glycans that become localized to the myotendinous and neuromuscular junctions in adult skeletal muscle and defined the glycosyltransferases that create them. The lab then showed that overexpression of one such glycosyltransferase, GALGT2 (also B4GALNT2), could increase the expression of a number of muscle genes and proteins known to inhibit muscular dystrophy. This was followed by experiments demonstrating GALGT2 overexpression had therapeutic properties in disease models of at least four different forms of muscular dystrophy. In 2004, Paul moved his lab to Columbus Ohio to join the Center for Gene Therapy at Nationwide Children’s Hospital. There, his lab has designed and characterized gene therapy vectors for use in the treatment of children with muscular dystrophy. The lab, in collaboration with an extensive team of investigators from the Center, has developed and is now testing GALGT2 gene therapy in boys with Duchenne Muscular Dystrophy. Current research also involves the development of new gene therapies for congenital and limb girdle forms of muscular dystrophy, lysosomal storage disorders, and inherited myopathies, including GNE myopathy.
9 am PST/12 pm EST
While NDF is bringing this important series of events to you at no charge, our work and our funding to scientists were not paused because of COVID-19. Please consider making a donation (of any amount) to help us continue to fund our efforts if you are able.