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About Sickkids
About SickKids

Sarah Bowdin, BM, M.Sc., MRCPCH (UK)

The Hospital for Sick Children
Staff Physician
Clinical and Metabolic Genetics

Research Institute
Project Investigator
Research Institute

University of Toronto
Associate Professor

Phone: 416 813-7654 Ext. 206389
Fax: 416 813-5345
Email: sarah.bowdin@sickkids.ca

Brief Biography

Dr. Sarah Bowdin graduated from the University of Southampton Medical School England.  She completed her training in general paediatrics and neonatology in London, England and Edinburgh, Scotland, obtaining membership of the Royal College of Paediatrics and Child Health in 2001. Bowdin then trained in Clinical Genetics in the West Midlands Regional Genetics unit, England.  During the four-year clinical training program, she also undertook a Masters degree in Prenatal Genetics and Fetal Medicine at University College London.  

Bowdin joined The Hospital for Sick Children (SickKids) in July 2008 as a Staff Geneticist. She is an Assistant Professor in the Department of Paediatrics at University of Toronto, Member of the Medical Board of Directors for the Loeys-Dietz Foundation (Canada and US) and sits on various divisional and hospital-based committees.  

Clinical Care Activities

Bowdin's clinical care activities include craniosyntosis, cleft lip and palate, dysmorphology, and cardiac genetics. 

Research Activities

  • Cardiac Genetics 
  • Orofacial clefting
  • Craniosyntosis
  • Ciliopathies
  • Genomic Imprinting

Recent Publications

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
Chaudhry A, Sabatini P, Han L, Ray PN, Forrest C, Bowdin S. Am J Med Genet A. 2015 Jun 22. doi: 10.1002/ajmg.a.37218. [Epub ahead of print]. PMID:26097063

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S. Genet Med. 2015 May 21. doi: 10.1038/gim.2015.60. [Epub ahead of print]. PMID:25996639

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.
Bowdin SC
, Hayeems RZ, Monfared N, Cohn RD, Meyn MS. Clin Genet. 2015 Feb 25. doi: 10.1111/cge.12579. [Epub ahead of print]. PMID:25813238

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA. Ann Neurol. 2014. Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4. PMID:25223753

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines. Anderson JA, Hayeems RZ, Shuman C, Szego MJ, Monfared N, Bowdin S, Zlotnik Shaul R, Meyn MS.
Clin Genet. 2015 Apr;87(4):301-10. doi: 10.1111/cge.12460. Epub 2014 Oct 7. PMID:25046648

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care. Bowdin S, Ray PN, Cohn RD, Meyn MS. Hum Mutat. 2014 May;35(5):513-9. doi: 10.1002/humu.22536. Epub 2014 Apr 7. Review. PMID:24599881

Predictive genomic testing of children for adult onset disorders: a Canadian perspective.
Szego MJ, Meyn MS, Anderson JA, Hayeems R, Shuman C, Monfared N, Bowdin S, Shaul RZ. Am J Bioeth. 2014 Mar;14(3):19-21. doi: 10.1080/15265161.2013.879960. No abstract available. PMID:24592833

Loeys-Dietz syndrome: a primer for diagnosis and management. MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27. Review. PMID:24577266

Karp, N, Grosse-Wortmann L, Bowdin S: Critical Aortic Stenosis, Bicuspid Aortic Valve and Atrial Septal Defect in a Child with Joubert Syndrome and Related Disorders (JSRD) - a Case Report and Review of Congenital Heart Defects Reported in the Human Ciliopathies.  European Journal of Medical Genetics 2012: 55 (11): pp 605-610.  

Fenwick A, Bowdin S, Klatt R, Wilkie A: A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome. BMC Medical Genetics 2011: 12: pp 122.  

Baskin B, Bowdin S, Ray PN: Cherubism - Comprehensive update posted live on September 1, 2011.  In:  GeneReviews [Internet]. (Pagon RA, Bird TD, Dolan CR, Stephens K, eds).  Copyright - University of Washington.WA, Seattle, WA 2011.

Bowdin S, Rowland H: Genetic syndromes and PICU - specific features.  In:  Oxford Handbook of Pediatric Intensive Care, March 2010 (Barry P, Morris K, Ali T, eds).  Oxford University Press, Oxford, UK 2010: pp 761-78.