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

Burns, AR, Baker, RJ, Kitner, M, Knox, J, Cooke, B, Volpatti, JR et al.. Selective control of parasitic nematodes using bioactivated nematicides. Nature. 2023.618 (7963)102-109 PMID:37225985

Priestley, JRC, Deshwar, AR, Murthy, H, D'Agostino, MD, Dupuis, L, Gangaram, B et al.. Monoallelic Loss of Function BMP2 Variants Result in BMP2-Related Skeletal Dysplasia Spectrum. Genet Med. 2023. 100863 PMID:37125634

Deshwar, AR, Yuki, KE, Hou, H, Liang, Y, Khan, T, Celik, A et al.. Trio RNA sequencing in a cohort of medically complex children. Am J Hum Genet. 2023.110 (5)895-900 PMID:36990084

Chong, JX, Childers, MC, Marvin, CT, Marcello, AJ, Gonorazky, H, Hazrati, LN et al.. Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. medRxiv. 2023. PMID:36945405

Sondheimer, N, Aleman, A, Cameron, J, Gonorazky, H, Sabha, N, Oliveira, P et al.. Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy. HGG Adv. 2023.4 (2)100182 PMID:36845668

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