James Dowling


Professor, Pediatrics and Molecular Genetics, University of Toronto

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

NMD4C Involvement: Pillar 1: Preclinical Science, Pillar 2: Clinical Research, Theme 5: Open Science

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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

Karuppasamy, M, English, KG, Henry, CA, Manzini, MC, Parant, JM, Wright, MA et al.. Standardization of zebrafish drug testing parameters for muscle diseases. Dis Model Mech. 2024.17 (1) PMID:38235578

Lawlor, MW, Schoser, B, Margeta, M, Sewry, CA, Jones, KA, Shieh, PB et al.. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. EBioMedicine. 2024.99 104894 PMID:38086156

Bullivant, J, Sen, A, Page, J, Graham, RJ, Jungbluth, H, Schara-Schmidt, U et al.. The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research. Neuromuscul Disord. 2024.35 42-52 PMID:38061948

Shieh, PB, Kuntz, NL, Dowling, JJ, Müller-Felber, W, Bönnemann, CG, Seferian, AM et al.. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. Lancet Neurol. 2023.22 (12)1125-1139 PMID:37977713

Endo, Y, Groom, L, Wang, SM, Pannia, E, Griffiths, NW, Van Gennip, JLM et al.. Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Hum Mol Genet. 2024.33 (3)254-269 PMID:37930228

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