Kym Boycott

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Kym Boycott
Professor, Department of Pediatrics, University of Ottawa

Courriel professionnel : [email protected]

Photo of Dr. Kym Boycott



Department Head, Department of Genetics, Children’s Hospital of Eastern Ontario

Senior Scientist, Children’s Hospital of Eastern Ontario Research Institute

Professor, Department of Pediatrics, University of Ottawa

Tier 1 Canada Research Chair in Rare Disease Precision Health



Kym Boycott is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO) and a Senior Scientist at the CHEO Research Institute. She completed her PhD, MD and FRCPC training in Medical Genetics at the University of Calgary. Dr. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health whose research program bridges clinical genomics to basic research and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. For the past 10 years she has led the national genomic sequencing efforts, FORGE Canada and Care4Rare Canada, integrating genomic and other omic technologies to improve our understanding of rare disease. In that timespan, these efforts have studied more than 1500 different rare diseases, solving almost half of these and providing an accurate diagnosis to 1000s of families. Care4Rare is now focused on solving the unsolved and most difficult rare diseases. In 2013 she co-established the Canadian Rare Diseases: Models & Mechanisms Network, founded to catalyze connections between clinical investigators discovering new genes and basic scientists who can analyze equivalent genes and pathways in model organisms. She has moved the international rare disease agenda forward through her role as the inaugural Chair of the Diagnostics Committee of the International Rare Diseases Research Consortium, member of the Steering Committee of the Global Alliance for Genomics and Health, and member of the Global Commission to End the Diagnostic Odyssey for Children.


Research Interests:

Identify the genetic causes of unsolved RDs; Understand the molecular mechanisms underlying RDs, particularly those with therapeutic opportunity; and, Deliver genome-wide sequencing and other mature ‘omic technologies into the healthcare system.

Champs d'intérêt

  • Neurogenetics
  • Phenotype delineation
  • Natural history
  • Next-generation sequencing
  • Genomic sequencing
  • Health services
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