The Neuromuscular Disease Network for Canada


James Dowling


Staff Clinician, Division of Neurology, The Hospital for Sick Children

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

Email James

Read more about James


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

Anderson, ND, Babichev, Y, Fuligni, F, Comitani, F, Layeghifard, M, Venier, RE et al.. Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival. Nat Commun. 2021.12 (1)4496 PMID:34301934

Maani, N, Karolczak, S, Dowling, JJ. Genetic therapy for congenital myopathies. Curr Opin Neurol. 2021. PMID:34267051

Dowling, JJ, Weihl, CC, Spencer, MJ. Molecular and cellular basis of genetically inherited skeletal muscle disorders. Nat Rev Mol Cell Biol. 2021. PMID:34257452

Oskoui, M, Gonorazky, H, McMillan, HJ, Dowling, JJ, Amin, R, Gagnon, C et al.. Guidance on gene replacement therapy in Spinal Muscular Atrophy: a Canadian perspective. Can J Neurol Sci. 2021. 1-11 PMID:34082851

Qashqari, H, Ramani, A, Gonorazky, H, Amburgey, K, Ghahramani Seno, MM, Brudno, M et al.. Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly. Neurology. 2021. PMID:34016710

See more on PubMed