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About Sickkids
About SickKids

David Chitayat, M.D., FABMG, FACMG, FCCMG, FRCPC

The Hospital for Sick Children
Staff Physician
Clinical and Metabolic Genetics

Research Institute
Project Director
Research Institute

University of Toronto
Medical Director
MSc Program in Genetic Counseling

Paediatrics, Obstetrics and Gynecology, Laboratory Medicine, Pathobiology and Molecular Genetics

Other Positions

Mount Sinai Hospital
The Prenatal Diagnosis and Medical Genetics Program

Phone: 416 813-7654 Ext. 206389
Fax: 813 586-4523
Email: david.chitayat@sickkids.ca

Brief Biography

David Chitayat obtained his MD, Summa Cum Laude Absoluto from Tel-Aviv University, Sackler School of Medicine.  After graduating from medical school, he served in the Israeli Defense Force and was later promoted to the position of a Major.  Dr. Chitayat completed his residency in Pediatrics at the Tel-Aviv Medical Center, Sackler School of Medicine, Tel Aviv University and completed his fellowship in clinical genetics at the Albert Einstein School of Medicine, The Yeshiva University, New York, NY, USA and at the Department of Medical Genetics, University of British Columbia, BC, Canada.  He is a fellow of the American Board of Medical Genetics since 1987, the Canadian College of Medical Genetics since 1990 and The Royal College of Physicians and Surgeons of Canada since 1992.  He joined the Department of Pediatrics, McGill University in 1989 and the Department of Pediatrics, Division of Clinical and Metabolic Genetics in 1992.  

Dr. Chitayat has published over 15 book chapters and over 300 peer reviewed papers. He has been an invited visiting professor, and a keynote speaker at national and international universities and institutions.

Academic Background

Professor, Department of Pediatrics, Obstetrics & Gynaecology, Laboratory Medicine & Pathobiology & Molecular Genetics, University of Toronto, Toronto, ON
Medical Director, MSc Program in Genetic Counselling, University of Toronto, Toronto, ON
Head, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto

Research Interests

  • Cardiac Genetics
  • Molecular Genetics
  • Neurogenetics Genetics


Continuing Education Award for Excellence in Long-term Contributions in Course Coordination, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, 2010.

Recipient of the Founders Award for Excellence in Medical Genetics.  This award is conferred upon individuals who have a significant contribution to the Canadian College of Medical Geneticists and the Genetics Community,  2010.

The University of Toronto, Department of Pediatrics Richard Rowe Award for Clinical Excellence for 2012.

Recent Publications

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA, Chitayat D, Boycott KM, Weaver DD, Jones SJ [FORGE Canada Consortium]: Mutations in EZH2 Cause Weaver Syndrome.  American Journal of Human Genetics 2012: 90(1): pp 110-118.  

Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D: Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome.  [Epub ahead of print].  American Journal of Medical Genetics A 2012: 158 (1): pp 182-187.  

Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafe L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenco CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.  Nature Geneics 2012: 44 (3): pp 338-342.

Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D:
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.  American Journal of Human Genetics 2012: 90 (3): pp 550-557.  

Chung BH, Fernandez B, Li C, Chitayat D: Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome.  Clinical Dysmorphology 2012: 21 (2): pp 109-111.

Murji A, Proctor LK, Paterson AD, Chitayat D, Weksberg R, Kingdom J: Male sex bias in placental dysfunction.  American Journal of Medical Genetics A 2012: 158 (4): pp 779-783.  

Shaffer LG, Dabell MP, Rosenfeld JA, Neill NJ, Ballif BC, Coppinger J, Diwan NR, Chong K, Shohat M, Chitayat D: Referral patterns for microarray testing in prenatal diagnosis.  Prenatal Diagnosis 2012: 32(4): pp 344-350.

Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H: Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of 'e1-dystroglycan.  Nature Genetics 2012: 44(5): pp 581-585.  

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC: Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.  Nature Genetics 2012: 44(5): pp 581-585.  

Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC: A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.  Genetics in Medicine 2012: 14 (5): pp 543-551.