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
Djordjevic, D, Alawneh, I, Amburgey, K, Yuki, KE, Kyriakopoulou, LG, Navickiene, V et al.. A novel deep intronic variant in LAMA2 identified by RNA sequencing. Neuromuscul Disord. 2024.39 19-23 PMID:38691940
Oh, RY, AlMail, A, Cheerie, D, Guirguis, G, Hou, H, Yuki, KE et al.. A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods. HGG Adv. 2024.5 (3)100299 PMID:38659227
Fabian, L, Karimi, E, Farman, GP, Gohlke, J, Ottenheijm, CAC, Granzier, HL et al.. Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Hum Mol Genet. 2024.33 (12)1036-1054 PMID:38493359
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
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