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
Email JamesBiography
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
Coulson, Z, Kolb, J, Sabha, N, Karimi, E, Hourani, Z, Ottenheijm, C et al.. Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion. Skelet Muscle. 2025.15 (1)8 PMID:40108735
Lindzon, J, List, M, Geissah, S, Ariaz, A, Zhao, M, Dowling, JJ et al.. Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3. Brain Commun. 2025.7 (2)fcaf077 PMID:40066109
Huang, L, Simonian, R, Lopez, MA, Karuppasamy, M, Sanders, VM, English, KG et al.. X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model. EMBO Mol Med. 2025. PMID:39994482
Coulson, Z, Kolb, J, Sabha, N, Karimi, E, Hourani, Z, Ottenheijm, C et al.. Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion. Res Sq. 2024. PMID:39764134
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
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