Faculty profile
James Dowling
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Research
Latest papers
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.
Journal of neuromuscular diseases · 2025
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics · 2022
Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.
Canadian journal of anaesthesia = Journal canadien d'anesthesie · 2014
Latest funding
- $1,690,650
A strategy for using machine intelligence to design high-capacity viral vectors that evade pre-existing immunity and enable gene therapies for diseases involving defects in large genes.
CIHR · 2025 · Co-investigator
- $1,597,256
Real-World Evidence for Canadian Neuromuscular Disease: Establishing a Framework for National Integration of Patient Reported Outcomes, Clinical Registry Data, Healthcare Utilization and Healthcare Associated Costs
CIHR · 2023 · Co-investigator
- $956,250
Therapy development for X-linked myotubular myopathy
CIHR · 2023 · Nominated PI
4 publications.
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A
Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.
Riazi S, Kraeva N, Muldoon SM, Dowling J, Ho C, Petre MA, Parness J, Dirksen RT, Rosenberg H
The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy.
Cheng X, Zhang X, Gao Q, Ali Samie M, Azar M, Tsang WL, Dong L, Sahoo N, Li X, Zhuo Y, Garrity AG, Wang X, Ferrer M, Dowling J, Xu L, Han R, Xu H
A strategy for using machine intelligence to design high-capacity viral vectors that evade pre-existing immunity and enable gene therapies for diseases involving defects in large genes.
Principal investigators: Garton, Michael J
Keywords: Viral Vector Design
Real-World Evidence for Canadian Neuromuscular Disease: Establishing a Framework for National Integration of Patient Reported Outcomes, Clinical Registry Data, Healthcare Utilization and Healthcare Associated Costs
Principal investigators: Amin, Reshma; Osman, Homira; Cohen, Eyal; Hodgkinson, Victoria; Jewett, Gordon; Lochmüller, Hanns
Keywords: Health Services Research; Healthcare Service Utilization; Neuromuscular Disease; Registry
Therapy development for X-linked myotubular myopathy
Principal investigators: Dowling, James
Keywords: Congenital Myopathies; Disease Pathomechanisms; Drug Development; Myotubular Myopathy
The role of SPEG (Striated muscle preferentially expressed protein kinase) in skeletal muscle development and human muscle disease
Principal investigators: Dowling, James
Keywords: Centronuclear Myopathy; Excitation Contraction Coupling; Myogenesis; Speg; Zebrafish
Therapy development for X-linked myotubular myopathy
Principal investigators: Dowling, James
Keywords: Congenital Myopathies; Disease Pathomechanisms; Drug Development; Myotubular Myopathy
Determining the environmental modifiers and molecular mechanisms of liver disease in X-linked myotubular myopathy.
Principal investigators: Pannia, Emanuela
Keywords: Aav Therapy; Environment X Gene Interaction; Epigenome; Immune System; Liver Disease; Metabolism; Myotubular Myopathy; Nutrition; Preclinical Models; Transcriptomics
Hurdling the liver to improve gene therapy
Principal investigators: Dowling, James
Developing Targeted Therapies for Rare and Common Forms of Inflammatory Bowel Disease
Principal investigators: Muise, Aleixo M
Keywords: Drug Screening; Genetics; Inflammatory Bowel Disease; Monogenic Defects; Pediatrics; Zebrafish
Novel therapies for neuromuscular diseases with altered phosphoinositide metabolism
Principal investigators: Dowling, James
Keywords: Drug Development; Myopathy; Neuropathy; Phosphoinositides; Pre-Clinical; Rare Disease
Unraveling the genetics of malignant hyperthermia
Principal investigators: Dowling, James
Keywords: Excitation Contraction Coupling; Gene Discovery; Malignant Hyperthermia; Whole Exome Sequencing
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Genetics and Genome Biology
- Pediatrics
- Department of Anesthesiology and Pain Medicine
Co-authors at University of Toronto, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
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