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photo of Kym Boycott with her group of researchers

Kym M Boycott, MD, PhD, FRCPC, FCCMG photo of Kym Boycott
Clinical Geneticist, Department of Genetics, CHEO
Senior Scientist, CHEO Research Institute
Professor, Department of Pediatrics, Faculty of Medicine,
University of Ottawa
Chair, International Rare Disease Research Consortium (IRDiRC),
Diagnostics Committee
Research Practice Areas:
Current Research:

Dr. Boycott’s research bridges clinical medicine with basic science, focusing on understanding the molecular basis of rare genetic diseases while integrating genome-wide sequencing into routine clinical care. She is internationally recognized for her leadership of the Care4Rare Canada Consortium ( to date, Care4Rare (together with its predecessor, FORGE Canada) has identified a genetic diagnosis for 400 rare diseases, discovered 135 new disease genes, and provided a diagnosis for more than 1500 patients and families. These diagnoses and discoveries were primarily made via whole-exome sequencing (WES), but many rare genetic diseases remain unsolved following WES. Therefore Care4Rare is now looking beyond the exome, using patient engagement (e.g.,, global data sharing (e.g., and novel genomic approaches (e.g., whole-genome sequencing, RNA sequencing, and metabolomics) to understand the molecular basis of rare diseases. While Care4Rare and others have demonstrated the diagnostic utility of genome-wide sequencing for rare disease, it remains extremely difficult to access in Canada. Thus, Care4Rare is working with ministries of health on how to best implement of genome-wide sequencing into the diagnostic pathway for rare disease, in order to maximize its clinical utility and cost-effectiveness.

Research Team:

Kym Boycott is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Senior Scientist at the CHEO Research Institute, and Professor of Pediatrics at the University of Ottawa. Dr. Boycott’s research program in rare diseases bridges clinical medicine to basic research and is focused on understanding the molecular pathogenesis of these disorders to improve patient care and family well-being. She is the Principal Investigator of Care4Rare Canada, a pan-Canadian platform integrating genomic and other –omic technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases. She is co-Principal Investigator of the Rare Diseases: Models & Mechanisms Network, established to catalyze connections between clinical investigators discovering new genes and basic scientists who can analyze equivalent genes and pathways in model organisms. Dr. Boycott moves the international rare disease agenda forward through her role as the Chair of the Diagnostics Committee of the International Rare Diseases Research Consortium, a member of the Steering Committee of the Global Alliance for Genomics and Health and as a member of the Global Commission to End the Diagnostic Odyssey for Children. 

Sample Publications:

Boycott KM, Ardigo D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat Rev Drug Discov 2018; 17(3):151-152.

Boycott KM, Dyment DA, Innes AM. Unsolved recognizable patterns of human malformation: Challenges and opportunities. Am J Med Genet C Semin Med Genet 2018; 178(4):382-386.
Choquet K, Tetreault M, Yang S, La PR, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. Eur J Hum Genet 2016; 24(7):1016-1021.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. International cooperation to enable the diagnosis of all rare genetic diseases. Am J Hum Genet 2017; 100(5):695-705

Boycott KM, Innes AM. When one diagnosis is not enough. N Engl J Med 2017; 376:83-85.

Boycott KM, Ardigó D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat Rev Drug Discov 2017. [Epub ahead of print; December 15].

Boycott KM. Increasing diagnostic yield of genomic sequencing. Pathology 2016; 48 Suppl 1:S30.
Boycott KM. IRDIRC and GA4GH: International efforts to advance rare disease discovery. Pathology 2016; 48 Suppl 1:S31-S32.

Boycott KM. Depth of the rare genetic diseases: Strategies to identify the remaining genes and diseases. Pathology 2016; 48 Suppl 1:S30.

Boycott KM, Mackenzie AE. Therapeutic opportunities from genomic sequencing. Pathology 2016; 48 Suppl 1:S31.

Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, Suri M, Boycott KM. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. Am J Med Genet A 2016; 170(7):1820-1825.

Aldinger KA, Mosca SJ, Tetreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, Parboosingh JS, Innes AM, Doherty D. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet 2014;95(2):227-234.

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJM, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintel RF, Shen Y, Scherer SW, FORGE Canada Consortium, Friedman JM, Michaud JL, Boycott KM. FORGE Canada Consortium: Outcomes of a 2-year national rare disease gene discovery project. Am J Hum Genet 2014; 94:809-817  

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