The neuromuscular network for Canada

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James Dowling

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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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Biography

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

Shieh, C, Jones, N, Vanle, B, Au, M, Huang, AY, Silva, APG et al.. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet. Med. 2020. PMID:32047287

Shieh, C, Jones, N, Vanle, B, Au, M, Huang, AY, Silva, APG et al.. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet. Med. 2020. PMID:31949314

Todd, JJ, Lawal, TA, Witherspoon, JW, Chrismer, IC, Razaqyar, MS, Punjabi, M et al.. Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies. Neurology. 2020. PMID:31941795

Jardine, S, Anderson, S, Babcock, S, Leung, G, Pan, J, Dhingani, N et al.. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency. Gastroenterology. 2019. PMID:31743734

Zhao, M, Smith, L, Volpatti, J, Fabian, L, Dowling, JJ. Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish. Hum. Mol. Genet. 2019.28 (24)4186-4196 PMID:31691805

Qiu, B, Ruston, J, Granzier, H, Justice, MJ, Dowling, JJ. Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease. Biol Open. 2019.8 (9) PMID:31530540

Volpatti, JR, Al-Maawali, A, Smith, L, Al-Hashim, A, Brill, JA, Dowling, JJ et al.. The expanding spectrum of neurological disorders of phosphoinositide metabolism. Dis Model Mech. 2019.12 (8) PMID:31413155

Donkervoort, S, Dowling, JJ, Laporte, J, MacArthur, D, Bönnemann, CG, 214th ENMC workshop participants et al.. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscul. Disord. 2019.29 (8)644-650 PMID:31400830

Brennan, S, Garcia-Castañeda, M, Michelucci, A, Sabha, N, Malik, S, Groom, L et al.. Mouse model of severe recessive RYR1-related myopathy. Hum. Mol. Genet. 2019.28 (18)3024-3036 PMID:31107960

O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V et al.. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am. J. Hum. Genet. 2019.104 (6)1210-1222 PMID:31079897

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