Dr Dowling received his BS and MS from Yale University and his MD/PhD from University of Chicago.  His PhD was performed in the laboratory of Elaine Fuchs.  He did his child neurology training at Children’s Hospital of Philadelphia, followed by a postdoctoral fellowship in neuromuscular diseases at the University of Michigan. He was an assistant professor at the University of Michigan until moving to Toronto, where he is now an associate professor in paediatrics and molecular genetics at the University of Toronto.

Dr Dowling’s clinical expertise is in congenital myopathies, and he is a leading authority on the diagnosis, care, and treatment of these disorders.  His research examines disease pathogenesis and therapy development for congenital myopathies, with a particular focus on nemaline myopathy and centronuclear myopathy.  His laboratory has helped pioneer the use of the zebrafish as a congenital myopathy disease model, and he is exploring multiple avenues for developing treatments for these conditions.

Dr Dowling is the recipient of a current 3 year grant from the Myotubular Trust, supported by ZNM-Zusammen Stark!, investigating drug repurposing for myotubular myopathy, and previous grants investigating the regulation of ‘PIPs’ in XLMTM patients as a potential route to treatment.