James Dowling, MD, PhD
The Hospital for Sick Children
Genetics & Genome Biology
University of Toronto
Dr. Dowling is a clinician-scientist who is focused on gene discovery and therapy development for childhood muscle diseases.
Dowling received his BSc and MSc from Yale University and his MD/PhD from the University of Chicago. His PhD work was performed in the laboratory of Elaine Fuchs. He did his residency in child neurology at Children’s Hospital of Philadelphia and completed postdoctoral research with Jeff Golden (UPenn) and Eva Feldman (University of Michigan). Until recently, he was an assistant professor at the University of Michigan. His clinical expertise is in childhood neuromuscular disorders and he is considered one of the leading authorities on the diagnosis and management of congenital myopathies.
Dowling’s research has examined questions of disease pathogenesis and therapy development for congenital myopathies and childhood muscular dystrophies. His laboratory has helped pioneer the use of the zebrafish model for these disorders. He has authored or co-authored more than 60 peer reviewed manuscripts and been fortunate to enjoy external funding from several sources (including NIH).
Dowling participates in multiple clinics related to paediatric neuromuscular disease. With Dr. Ronni Cohn, he has developed and is co-directing the neuromuscular undiagnosed diseases program (or UDP). This clinic is the first of its kind in Canada and aims to provide expert diagnostic assessment for children with unsolved muscle disease. Dowling and Dr. Grace Yoon run a clinic for paediatric neurogenetic/neuromuscular conditions. Dowling also participates in the ward consultation service through the Division of Neurology.
The overarching goal of the Dowling laboratory is to develop therapies for childhood muscle diseases. Dowling and his team are particularly focused on congenital myopathies and muscular dystrophies. His research spans the continuum from new gene discovery to disease pathogenesis studies in model organisms to both targeted and non-biased drug discovery. His laboratory employs both the zebrafish and mouse model systems and complementary in vitro analyses. A common cell biologic theme to these studies is the examination of the role(s) of endo-lysosomes and their regulators in muscle development and in disease.
- NIH NIAMS K08 award (2009-2013)
- NIH NIAMS R03 award (2012-2015)
- MDA Research Grant (2011-2014)
- CureCMD/LGMD2i Foundation Awards
- William Rainey Harper Dissertation Award (University of Chicago, 1998)
- Alpha Omega Alpha Honorary Medical Society (2000)
- Zeritsky Research Prize (University of Pennsylvania, 2005)
- Young Myologist of the Year (World Muscle Society, 2009)
- Philip Dodge Young Investigator Award (Child Neurology Society, 2011)
Gibbs EM, Davidson AE, Telfer WR, Feldman EL, Dowling JJ (2013). Defective tabulation associated with the myopathy causing S619L DNM2 mutation. Disease Models and Mechanisms. Oct 17 [Epub ahead of print] PMID: 24135484
Todd PK, Ackall FY, Hur J, Sharma K, Paulson HL, Dowling JJ (2013). Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type I. Disease Models and Mechanisms. Oct 2 [Epub ahead of print]. PMID: 24092878
Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ. (2013). Murine Fig4 is dispensable for muscle development but required for muscle function. Skeletal Muscle MS ID: 1768229278953722
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. (2013) Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet Journal of Rare Disease. 8:117
Dowling, JJ. (2013). Editorial: Titin and centronuclear myopathy: the tip of the iceberg for TTN-ic mutations? Neurology. Aug 23 (epub ahead of print)
Gibbs EM, Horstick EJ, Dowling JJ. (2013). Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. FEBS Journal. 280(17):4187-9
Horstick, EJ*, Linsley, JW*, Dowling, JJ*, Hauser, MA, McDonald, KK, Ashley-Koch, A, Saint-Amant, L, Satish, A, Cui, WW, Zhou, W, Sprague, SM, Stamm, DS, Powell, CM, Speer, MC, Franzini-Armstrong, C, Hirata, H, and Kuwada, JY. (2013). Stac3 is a novel component for excitation-contraction coupling and mutated in Native American Myopathy. Nature Communications. 4:1952
Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ. (2013). A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders. 23(5): 432-436
Amburgey, K., Lawlor, M.W., Del Gaudio, D., Cheng, Y.W., Fitzpatrick, C., Minor, A., Li, X., Aughton, D., Das, S., Beggs, A.H., and Dowling, J.J. (2013) Large Duplication in MTM1 associated with myotubular myopathy. Neuromuscular Disorders. 23(3): 214-218.
Gibbs, E.M., Clarke, N.F., Rose, K., Oates, E.C., Webster, R., Feldman, E.L., and Dowling J.J. (2013) Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. Journal of Molecular Medicine. Epub ahead of print.