Dr. James Dowling is a Professor of Neurology and Genetics at the University of Pennsylvania, Director of Penn Neurogenetics Therapy Center, and Adjunct Senior Scientist at the  Hospital for Sick Children.

He led a translational research program focusing on the diagnosis and treatment of paediatric neuromuscular disorders with a focus on congenital myopathies and muscular dystrophies. He has published more than 100 peer reviewed manuscripts on topics related to neuromuscular disorders, and has been fortunate to have funding from multiple agencies including CIHR, NSERC, Genome Canada, and NIH.

He was formely, the Chair of the Canadian Paediatric Neuromuscular Group (CPNG), a collaboration of Canadian paediatric neuromuscular specialists aimed at facilitating research, clinical care and education for patient’s families with NMD. He servedf on the scientific advisory board of Defeat Duchenne Canada (formely known as Jesse’s Journey), Muscular Dystrophy Canada, and MDA, and an executive board member of the World Muscle Society. He represented paediatric NMDs as a former member of the NMD4C Steering Committee, leading on genomics education and curriculum, and also supported trial coordination.