James Dowling


Staff Clinician, Division of Neurology, The Hospital for Sick Children; Professor of Paediatrics and Molecular Genetics, the University of Toronto

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

NMD4C Working Group(s): Clinical Trial Coordination

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Dr. James Dowling is a 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

Simonian, R, Pannia, E, Hammoud, R, Noche, RR, Cui, X, Kranenburg, E et al.. Methylenetetrahydrofolate reductase deficiency and high dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish. Hum Mol Genet. 2023. PMID:36637428

Deshwar, AR, Cytrynbaum, C, Murthy, H, Zon, J, Chitayat, D, Volpatti, J et al.. Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Brain. 2022. PMID:36477332

Hartley, T, Soubry, É, Acker, M, Osmond, M, Couse, M, Gillespie, MK et al.. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clin Genet. 2023.103 (3)288-300 PMID:36353900

Qashqari, H, McNiven, V, Gonorazky, H, Mendoza-Londono, R, Hassan, A, Kulkarni, T et al.. PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications. Neuromuscul Disord. 2022.32 (10)842-844 PMID:36210261

Harrington, S, Knox, JJ, Burns, AR, Choo, KL, Au, A, Kitner, M et al.. Egg-laying and locomotory screens with C. elegans yield a nematode-selective small molecule stimulator of neurotransmitter release. Commun Biol. 2022.5 (1)865 PMID:36002479

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