The Neuromuscular Disease Network for Canada


James Dowling


Staff Clinician, Division of Neurology, The Hospital for Sick Children

Senior Scientist, Program of Genetics and Genome Biology, The Hospital for Sick Children

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Dr. James Dowling is an Associate Professor of Paediatrics and Molecular Genetics at the University of Toronto, and a Neurologist and Senior Scientist at the Hospital for Sick Children. He leads 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. Currently, he is 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 serves on the scientific advisory board of Jesse’s Journey, Muscular Dystrophy Canada, and MDA, and is an executive board member of the World Muscle Society. He represents paediatric NMDs as a member of the NMD4C Steering Committee, leads on genomics education and curriculum, and participates in trial coordination.

Recent publications

Hodgkinson, V, Lounsberry, J, M'Dahoma, S, Russell, A, Benstead, T, Brais, B et al.. The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry. J Neuromuscul Dis. 2020. PMID:32925088

Smith, L, Fabian, L, Al-Maawali, A, Noche, RR, Dowling, JJ. De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis. PLoS One. 2020.15 (8)e0231364 PMID:32804943

Shieh, PB, Bönnemann, CG, Müller-Felber, W, Blaschek, A, Dowling, JJ, Kuntz, NL et al.. Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte. Hum Gene Ther. 2020.31 (15-16)787 PMID:32777938

Fabian, L, Dowling, JJ. Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A). Front Mol Neurosci. 2020.13 122 PMID:32742259

Djordjevic, D, Tsuchiya, E, Fitzpatrick, M, Sondheimer, N, Dowling, JJ. Utility of metabolic screening in neurological presentations of infancy. Ann Clin Transl Neurol. 2020.7 (7)1132-1140 PMID:32495504

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