The Hospital for Sick Children, Toronto, Canada - Professor, Departments of Paediatrics, Neurology and Molecular Genetics
Education summary
MD, Dalhousie University
Residency, Medical Genetics, University of Calgary
Fellowship, Neurogenetics, University of California at San Francisco
Career summary
I joined the division of Clinical and Metabolic Genetics at the Hospital for Sick Children in January of 2006, and my first initiative was to establish a joint clinic between the divisions of paediatric neurology and clinical genetics to facilitate multidisciplinary diagnosis and care for children with inherited neuromuscular disorders, and their families. The scope of activities stemming from this initiative extends beyond the clinic, and includes the discovery and characterisation of novel genes which cause severe neurological disorders, as well as unique educational opportunities for trainees. Since joining the WMS I have been privileged to collaborate with many WMS member colleagues in advancing the neuromuscular field, specifically with respect to genetic diagnostics and characterisation of rare neuromuscular conditions. Importantly, I have introduced many early-career faculty and trainees to the WMS and have encouraged them to become active members of the Society. I was a member of the WMS Scientific Programme Committee from 2019-2022, which involved navigating the changes from a fully in-person annual congress to a fully virtual one during the COVID pandemic. I was a member of the Local Organising Committee for the 27th World Muscle Society Congress in Halifax, which was the first post-pandemic hybrid WMS congress, and established the commitment to accessibility and sustainability, which continues to this day. I am also an active member of the ClinGen Congenital Myopathies and Ataxias working groups, the American Society of Human Genetics, the Canadian College of Medical Genetics and promote the interests of the neuromuscular field within these organisations.
What is the personal or professional achievement you’re most proud of?
I am most proud of the accomplishments of the trainees that I have been fortunate to work with over the years - nearly a third of my 153 publications are a result of projects completed by trainees under my direct supervision, and many of them have gone on to establish their own independent research and/or clinical groups.
Why did you first join the WMS?
I first joined the WMS in 2014 as I wanted to connect with colleagues who shared my interest in providing the best care possible for patients with genetic neuromuscular disorders. Membership and active participation in the WMS has lead to wonderful collaborations and friendships, and enabled opportunities for trainees, which would otherwise not be possible. I have attended every WMS congress ever since, and look forward to continuing discussions and sharing ideas of how to advance the field every year.
What is your goal in joining the Executive Board?
I would like to contribute the perspective of a clinical geneticist with extensive experience in the diagnosis of patients with neuromuscular disorders. There is a need for education and awareness of the newer techniques available for genetic diagnosis and the molecular mechanisms of some of the rarer disorders in order to develop rational therapies for the neuromuscular community.
