James Dowling

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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Biography

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

Morton, SU, Costain, G, French, CE, Wakeling, E, Szuto, A, Christodoulou, J et al.. Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Neurology. 2025.104 (1)e210106 PMID:39700446

McMillan, HJ, Gonorazky, H, Campbell, C, Chrestian, N, Crone, M, Dowling, JJ et al.. Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies. Can J Neurol Sci. 2024. 1-3 PMID:39534980

Ghasempour, S, Warner, N, Guan, R, Rodari, MM, Ivanochko, D, Whittaker Hawkins, R et al.. Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis. J Exp Med. 2024.221 (12) PMID:39526957

Pannia, E, Dowling, JJ. A pro-oxidant suppresses unrelated diseases. Science. 2024.386 (6720)380-381 PMID:39446962

Knox, J, Burns, AR, Cooke, B, Cammalleri, SR, Kitner, M, Ching, J et al.. Cyprocide selectively kills nematodes via cytochrome P450 bioactivation. Nat Commun. 2024.15 (1)5529 PMID:38956039

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