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

Dowling, JJ, Riazi, S, Litman, RS. Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses. A A Pract. 2021.15 (1)e01377 PMID:33512901

Fouarge, E, Monseur, A, Boulanger, B, Annoussamy, M, Seferian, AM, De Lucia, S et al.. Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. Orphanet J Rare Dis. 2021.16 (1)3 PMID:33407688

Amburgey, K, Acker, M, Saeed, S, Amin, R, Beggs, AH, Bönnemann, CG et al.. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021.96 (10)e1425-e1436 PMID:33397769

Lawal, TA, Todd, JJ, Witherspoon, JW, Bönnemann, CG, Dowling, JJ, Hamilton, SL et al.. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skelet Muscle. 2020.10 (1)32 PMID:33190635

McMillan, HJ, Kernohan, KD, Yeh, E, Amburgey, K, Boyd, J, Campbell, C et al.. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations. Can J Neurol Sci. 2020. 1-8 PMID:33059774

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