The Neuromuscular Disease Network for Canada


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

Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X et al.. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022.109 (4)601-617 PMID:35395208

Espinosa, KG, Geissah, S, Groom, L, Volpatti, J, Scott, IC, Dirksen, RT et al.. Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Dis Model Mech. 2022.15 (5) PMID:35293586

Morton, SU, Christodoulou, J, Costain, G, Muntoni, F, Wakeling, E, Wojcik, MH et al.. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022.79 (4)405-413 PMID:35254387

Menon, D, Gonorazky, HD, Dowling, JJ, McAdam, L, Ansari, T, Vajsar, J et al.. Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care. Neuromuscul Disord. 2022.32 (3)206-212 PMID:35216880

Dowling, JJ. CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy-anti-Cas9 immune response casts its shadow over safety and efficacy. Gene Ther. 2022. PMID:35194186

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