James Dowling, MD, PhD
Dr. Dowling is a clinician-scientist focused on gene discovery and therapy development for childhood muscle diseases. He is currently a Professor of Genetics and Neurology at the University of Pennsylvania and Director of the Penn Neurogenetics Therapy Center. He is also a staff clinician at the Children’s Hospital of Philadelphia. He continues to hold adjunct positions at the University of Toronto and the Hospital for Sick Children, where he was a staff clinician, senior scientist, and Mogford Campbell Family Chair of Paediatric Neuroscience for 12 years before assuming his new roles at the University of Pennsylvania.
His clinical expertise is in childhood and adult genetic neuromuscular disorders. His research is focused on congenital myopathies and spans pre-clinical, translational, and clinical arenas. His research program has had sustained funding since its inception in 2009, and he has authored/co-authored more than 200 manuscripts. He has also been fortunate to receive several awards, including the WMS Young Myologist Award (2008) and the 2022 Muscular Dystrophy Canada (MDC) Researcher of the Year.
In addition to his research program, he is proud to serve as a member of the Scientific Advisory Board of The RYR-1 Foundation. He is also on the medical advisory committees of both MDA and Muscular Dystrophy Canada. In addition, he has held leadership positions related to neuromuscular diseases including serving as chair of the TREAT NMD Board of Trustees, chair of the Canadian Pediatric Neuromuscular Group, and as an Executive Board member of the WMS.
