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.
Fouarge, E, Monseur, A, Boulanger, B, Annoussamy, M, Seferian, AM, De Lucia, S et al.. Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. Orphanet J Rare Dis. 2021.16 (1)3 PMID:33407688
Amburgey, K, Acker, M, Saeed, S, Amin, R, Beggs, AH, Bönnemann, CG et al.. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021. PMID:33397769
Lawal, TA, Todd, JJ, Witherspoon, JW, Bönnemann, CG, Dowling, JJ, Hamilton, SL et al.. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skelet Muscle. 2020.10 (1)32 PMID:33190635
McMillan, HJ, Kernohan, KD, Yeh, E, Amburgey, K, Boyd, J, Campbell, C et al.. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations. Can J Neurol Sci. 2020. 1-8 PMID:33059774
Hodgkinson, V, Lounsberry, J, M'Dahoma, S, Russell, A, Jewett, G, Benstead, T et al.. The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry. J Neuromuscul Dis. 2021.8 (1)53-61 PMID:32925088See more on PubMed