James Dowling MD, PhD

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.