Dr. Peter Ray’s lab has contributed to the development of a number of new diagnostic tests for single genedisorders (Duchenne Muscular Dystrophy (DMD), Cystic Fibrosis (CF) and Tay Sachs disease) and mutligenic disorders (congenital muscular dystrophy, spastic paraplegia and cardiomyopathy).  Presently, Dr. Ray is spearheading the introduction of next generation sequence technologies into the clinic to better diagnose  multigenic complex genetic disorders. The aim of this research is discovering the genes that are associated with complex genetic disease and translating new discoveries into clinical practice. The process to move new discoveries into clinical practice includes:

• Developing the technology and infrastructure within the diagnostic lab to provide the test
• Validating the effect of mutations on clinical outcome
• Assessing both positive and negative impact of diagnostic testing on patient management
• Developing evidence-based guidelines on using genetic testing with clinical criteria for testing, minimal standards for sensitivity and specificity, interpreting results and reporting these results.
  

Dr. Ray’s work is a scientific director with The Centre for Applied Genomics and his clinical practice is closely integrated.

Dr. Ray earned 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. His post-doctoral training was completed at Stanford University School of Medicine in California studying the role of neural cell adhesion factors in the development of the embryonic eye. In 977, Dr. Ray joined the Department of Medical Genetics, in Toronto, where he studied human genetic diseases along 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 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. The laboratory has developed several of the molecular diagnostic tests that are used by diagnostic laboratories in North America.

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, and The Canadian College of Medical Genetics, The Familial Dysautonomia Society and Seneca College.