David Chitayat

Department of Paediatrics


Hospital for Sick Children (SickKids)
Ontario Power Generation Building, 700 University Ave. Rm. 3-790, Toronto, Ontario Canada M5G 1Z5
Research Interests
Cardiovascular, Genetics Genomics & Proteomics
Appointment Status

Dr. Chitayat is a Professor of Paediatrics, Obstetrics and Gynecology, Laboratory Medicine, Pathobiology and Molecular Genetics and the Medical Director of the MSc Program in Genetic Counseling at the University of Toronto, Toronto, ON.  He is the Head of the Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital and a staff at the Division of Clinical and Metabolic Genetics at HSC.  

In 2010 he was the recipient of the Founders Award for Excellence in Medical Genetics of the Canadian College of Medical Geneticists in recognition of his significant contribution to the Canadian College of Medical Geneticists and the Genetics Community.  He has published over 15 book chapters and over 400 peer reviewed papers in these fields.  His research interests include Prenatal Diagnosis, Urogenital abnormalities, Cardiac Genetics and  Neurogenetics. 


Research Synopsis


The recent breakthroughs in molecular genetics are heavily dependent on intense collaboration with top level clinical geneticists who are able to define and delineate the clinical phenotpe of the conditions investigated.  There are very few clinical geneticists in Canada devoted to and capable of supporting the current intense research in medical genetics and I am proud to be one of them.  My research contributions have centered on generating research questions based on interesting clinical cases and on translation of basic research findings to clinical practice.  This work primarily deals with detection of different fetal abnormalities on ultrasound, molecular, chromosome analysis and fetal autopsy and postnatal newborns/children with different conditions and identifying the responsible gene mutations causing them, in collaboration with different research laboratories.  My unique role in genetic research is highlighted through the following examples:

  1. Identifying the gene associated with autosomal dominat Robinow syndrome (WNT5A).  Clin  Gen 2015. 
  2. Identifying the gene associated with OI type V [J Clin Endocrinol Metab. 2014]. 
  3. Identifying the gene associated with PCH and sex reversal (Tao1) [submitted for publication]

Current genetic evaluation of stillbirths is based on clinical grounds (autopsy, examination of tissues) and laboratory testing (karyotype, microarray analysis). For 25-65% of stillbirths the etiology cannot be determined by current standard investigations. Our current research is aimed towards finding single gene disorders assocaited with fetal abnormalities by using whole exome sequencing (WES) and in the future whole exome sequencing.


Recent Publications


Selected list of recent publications

Roifman M, Marcelis C, Paton T, Marshall C, Silver R, Lohr J, Yntema H, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium, Brunner H, Chitayat D: De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clinical Genetics 2015: 87: pp 34-41.   

Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D: Hypotrichosis-Lymphedema-Telangiectasia-Renal defect Associated with a truncating mutation in the SOX18 gene. Clinical Genetics 2015: 87(4): pp 378-382. 

Rosenfeld JA, Tucker ME, Escobar LF, Neill NJ, Torchia BS, McDaniel LD, Schultz RA, Chong K, Chitayat D: Diagnostic utility of microarray testing of pregnancy losses. 2015 Oct;46(4). Ultrasound in Obstetrics and Gynaecology 2015: 46(4): pp 478-486

Buchanan JA, Chitayat D, Kolomietz E, Lee HC, Scherer SW, Speevak MD, Sroka H, Stavropoulos DJ: Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus. Journal of Medical Genetics 2015: 52 (9): pp 585-586

Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G: Folic acid supplementation for pregnant women and those planning pregnancy - 2015 update. [Epub ahead of print]. Journal of Clinical Pharmacology 2016: 56(2):pp 170-175