Skip to Main Content Go to Sitemap
SickKids

Gregory Costain

Title: Staff Physician, Division of Clinical and Metabolic Genetics
Designations: MD, PhD, FRCPC
Email: gregory.costain@sickkids.ca
Fax: 416-813-5345
Alternate Contact Name: Denese Henry
Alternate Phone: 416-813-7654 ext. 301480
Alternate Email: denese.henry@sickkids.ca
U of T Positions: Assistant Professor, Department of Paediatrics, Assistant Professor, Department of Molecular Genetics (status only)

Hospital Positions

Co-Lead, Translational Genomics, Precision Child Health

Research Positions

Scientist, Genetics and Genome Biology

Biography

Dr. Gregory Costain is a physician-scientist who specializes in the diagnosis and management of rare genetic conditions in children. Costain joined the Division of Clinical and Metabolic Genetics as Staff Physician in 2020 after completing his residency training at the University of Toronto. He directs the Genetic Epilepsy and severe Neurological Impairment Clinic (GENIC) at SickKids. Costain is also a Scientist in Genetics and Genome Biology, at the SickKids Research Institute. His research program is focused on understanding the causes and consequences of rare variation in the human genome. His lab uses genome sequencing and computational approaches to discover new disease genes, genotype-phenotype associations, and pathways to precision treatments.

Education

  • 20152020: Fellow of The Royal College of Physicians of Canada, Medical Genetics, University of Toronto
  • 20082015: Doctor of Medicine/ Doctor of Philosophy, Medical Science, University of Toronto
  • 20062008: Master of Science, Mathematics, McGill University
  • 20032006: Bachelor of Science, Mathematics, Honours, Queen’s University

Experience

  • 2024Present: Scientist, Program in Genetics and Genome Biology, SickKids Research Institute
  • 2021Present:  Associate Investigator, The Centre for Applied Genomics (TCAG), SickKids Research Institute
  • 2021Present: Assistant Professor (status only), Department of Molecular Genetics, University of Toronto
  • 2020Present: Assistant Professor, Department of Paediatrics, University of Toronto
  • 2020Present: Staff Physician, Clinical and Metabolic Genetics, The Hospital for Sick Children

Achievements

  • 2023: Genetic and Genome Medicine Innovation Award, Canadian College of Medical Geneticists
  • 2023: Department of Paediatrics POWER Teaching Award, University of Toronto (Education Award - Postgraduate)
  • 2019: Department of Paediatrics CanMEDS Competencies Award - University of Toronto
  • 2019: Division of Clinical and Metabolic Genetics Joe T.R. Clarke Award - SickKids
  • 2013: Institute of Genetics Lap-Chee Tsui Publication Award - Canadian Institutes of Health Research
  • 2011: Vanier Canada Graduate Scholarship - Canadian Institutes of Health Research

Publications

  1. Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. American Journal of Human Genetics. 2023; 110(11):1919-1937. (Co-)Senior Responsible Investigator.

  2. Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Trio RNA sequencing in a cohort of medically complex children. American Journal of Human Genetics. 2023;110(5):895-900. (Co-)Senior Responsible Investigator.

  3. Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program, Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain. 2022;145(9):3308-3327. (Co-)Senior Responsible Investigator.

  4. Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Genome sequencing as a diagnostic test in children with unexplained medical complexity. JAMA Network Open. 2020;3(9):e2018109. (Co-)Senior Responsible Investigator.

  5. D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurology. 2023;22(9):812-825. (Co-)Senior Responsible Investigator.

See a full list of Dr. Costain’s publications on Pubmed

Back to Top