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About Sickkids
About SickKids

Peter Ray, PhD, FCCMC, FACMG

The Hospital for Sick Children
Molecular Genetics

University of Toronto
Dept. of Molecular Genetics

Phone: 416-813-6497
Email: peter.ray@sickkids.ca

Brief Biography

Dr. Ray received his PhD in 1975 from the Medical Biophysics at the University of Toronto for his work on the regulation of gene expression in the bacteriophage lambda. He then completed two years of post-doctoral training at Stanford University School of Medicine in California studying the role of neural cell adhesion factors in the development of the embryonic eye. In 1977 Dr. Ray returned to Toronto and joined the Department of Medical Genetics where he began the study of human genetic disease with Dr. Louis Siminovitch. He moved to the Department of Genetics at The Hospital for Sick Children in 1980 and began work on Duchenne muscular dystrophy (DMD) in collaboration with Dr. Ronald Worton. This work resulted in the discovery, in 1985, of the gene responsible for this common, lethal genetic disorder.

In 1987 Dr. Ray established a diagnostic laboratory at The Hospital for Sick Children to use the techniques of molecular biology to provide carrier testing and prenatal diagnosis for families with DMD and cystic fibrosis. This laboratory was the first in the world to offer this service to the public. Since 1987 the laboratory has rapidly expanded and now offers genetic testing for a wide variety of disorders to families across Canada and the US. The laboratory has developed several of the molecular diagnostic tests that are used by diagnostic laboratories in North America.

Dr. Ray has published more than 120 papers in the areas of molecular genetics and molecular diagnosis.

Dr. Ray is a Fellow of the Canadian College of Medical Geneticists and a Founding Fellow of the American College of Medical Genetics. Dr. Ray sits on several advisory committees for the Ministry of Health, The Ontario Medical Association, The Canadian College of Medical Genetics, The Familial Dysautonomia Society and Seneca College.

Clinical Care Activities

The Molecular Diagnostic Laboratory at The Hospital for Sick Children directed by Dr. Peter Ray has been in operation since 1987 and is licensed in Ontario through the Ministry of Health and in the United States under CLIA. The laboratory, one of the largest paediatric molecular diagnostic laboratories in North America, currently processes over 30,000 samples per year and offers over 140 genetic tests. Samples are referred from across Ontario, from nine Canadian provinces, fourteen states and sixteen different countries.  The laboratory has been a leader in the implementation of new technology into clinical diagnostics. The laboratory has participated with several major genetic diagnostic companies in the development of new diagnostic tests and is also a major training centre for clinical molecular geneticists .

Research Interests

Research conducted in my laboratory has contributed to the development of a number of new molecular tests for both single disorders such as Duchenne Muscular Dystrophy, CF and Tay Sachs disease and multigenic disorders such as congenital muscular dystrophy, spastic paraplegia and cardiomyopathy. Currently we are introducing next generation sequencing to diagnose multigenic complex genetic disorders.  This translational research is closely linked to my interest in genomic medicine, specifically the discovery of genes associated with complex genetic disease, the investigation into the pathogenic relevance of genetic variations in these genes and the translation of these findings into patient management. The process for translating new discoveries into clinical practice includes (1) developing the technology and infrastructure within the diagnostic laboratory to provide testing, (2) defining the effects of mutations on clinical outcomes (clinical validity) (3) assessing the impact, both positive and negative, of diagnostic testing on patient management as well as its psychological impact on the families (clinical utility), (4) developing evidence based guidelines on the use of genetic testing with regard to clinical criteria for testing, minimal standards of sensitivity and specificity, interpretation of results and reporting standards. This work is closely integrated with activities in The Centre for Applied Genomics, TCAG of which I am a scientific director.

External Funding

  • Genome Canada
  • Ontario's Ministry of Research and Innovation
  • Ontario Genomics Institute
  • Office of Rare Disease, NIH
  • Canadian Foundation for Innovation


Baskin B, Gibson WT, Ray PN.  Duchenne Muscular Dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4. Neuromuscul Disord, 21:178-182, 2011

Baskin, B., Geraghty, M., Ray, PN.  Paternal Isodisomy of Chromosome 2 as a cause of Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.  Am J Med Genet A. 2010 Jul;152A(7):1808-11

Baskin, B, Banwell B, Al Khater R, Hawkins C, Ray PN.  Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene. Neuromusc Dis. 19:189-192, 2009

Buchanan JA, Carson AR, Chitayat D, Malkin D, Meyn MS, Ray PN, Shuman C, Weksberg R, Scherer SW. The cycle of genome directed medicine. Genome Medicine 1:16.  2009

Ali-Khan, S.E., Daar, A.S., Shuman, S., Ray, P.N., Scherer, S.W. Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Ped. Res. 66:357-363. 2009

Vajsar, J.,  Baskin, B., Swoboda, K., Harry Schachter, H., Ray,  P.N. Walker Warburg syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromusc. Dis. 18(8):675-677. 2008

Stockley, T. L., Akber, S., Bulgin, N., and Ray, P. N.: Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.  Genet. Test. 10:229-243, 2006.

Cisternas FA, Vincent JB, Scherer SW, Ray PN: Cloning and characterization of human CADPS and CADPS2, new member of the Ca2+-dependent activator for secretion protein family. Genomics 81:279-291, 2003.

Teebi AS, Kennedy S, Chun K, Ray PN: Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am.J.Med.Genet. 107:43-47, 2002.

Gold R, Caulfield TA, Ray PN: Gene patents and the standard of care. CMAJ. 167:256-257, 2002.

Biggar WD, Klamut HJ, Demacio PC, Stevens DJ, Ray PN: Duchenne muscular dystrophy: current knowledge, treatment, and future prospects. Clin.Orthop. 88-106, 2002.

Austin RC, Fox JE, Werstuck GH, Stafford AR, Bulman DE, Dally GY, Ackerley CA, Weitz JI, Ray PN: Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion. J.Biol.Chem. 277:47106-47113, 2002.

Demacio PC, Ray PN: Alpha-catulin maps to the familial dysautonomia region on 9q31. Genome 44:990-994, 2001.

Austin RC, Morris GE, Howard PL, Klamut HJ, Ray PN: Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain. Neuromuscul.Disord. 10:187-193, 2000.

Howard PL, Dally GY, Ditta SD, Austin RC, Worton RG, Klamut HJ, Ray PN: Dystrophin isoforms DP71 and DP427 have distinct roles in myogenic cells. Muscle Nerve 22:16-27, 1999.

Howard PL, Dally GY, Wong MH, Ho A, Weleber RG, Pillers DA, Ray PN: Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina. Hum.Mol.Genet. 7:1385-1391, 1998.

Howard PL, Klamut HJ, Ray PN: Identification of a novel actin binding site within the Dp71 dystrophin isoform. FEBS Lett. 441:337-341, 1998.