Dr. Tony Rupar, PhD, FCCMG
Children’s Health Research Institute
Scientist, Molecular Genetics Program
Lawson Health Research Institute
Scientist, Children's Health Research Institute
University of Western Ontario
Associate Professor, Departments of Paediatrics, Biochemistry, and Pathology
Chair, Division of Clinical Biochemistry, Department of Biochemistry
Other Appointments
Director, Biochemical Genetics Laboratory, Child and Parent Resource Institute
Medical Leader, Molecular Pathology, Department of Pathology and Laboratory
Medicine, London Health Sciences Centre
Contact Information
Tel: (519) 858-2774 Ext. 2204
Fax: (519) 858- 3913
E-mail: trupar@uwo.ca
Web: http://www.biochem.uwo.ca/fac/rupar/rupar.html
Brief Biography
Dr. Rupar received his doctoral degree in the Department of Biochemistry at The University of Western Ontario in 1980. This was followed by a Medical Research Council of Canada postdoctoral fellowship in the Department of Pharmacology, University of Cambridge. He returned to The University of Western Ontario as a faculty member and became a fellow in the Canadian College of Medical Geneticists in 1989 with a sub-specialty of Biochemical Genetics.
Dr. Rupar became Director of the Biochemical Genetics Laboratory, a regional diagnostic service, in 1997 and is a consultant in Biochemical Genetics to the Regional Medical Genetics Program. In 2001, he was appointed the Medical Leader of the Regional Diagnostic Genetics Laboratories Program. Dr. Rupar is chairman of the Garrod Association (Canadian Association of Centres for the Management of Hereditary Metabolic Disorders). He also serves on the Ontario Advisory Committee on Genetics for the Ministry of Health and Long Term Care.
Research Interests
• Gene transfer vectors in neurodegenerative diseases
• Targeted population screening for genetic disorders
• Informative patients with biochemical genetic disorders
Research Activities
Dr. Rupar’s research interests are related to biochemical genetic disorders and include the identification of informative patients and the treatment of genetic diseases. His main research activity has been to understand the pathogenesis and develop a treatment for a mouse model of the inherited neurodegenerative disorder, metachromatic leukodystrophy. He is also screening a selected high-risk population of newborn and infants for genetic disorders using umbilical cord blood and buccal swabs. Dr. Rupar has a long standing interest in the diagnosis and treatment of diseases caused by mutations in the mitochondrial genome.
Awards and Recognition
Funding in support of "Research towards a treatment for Metachromatic Leukodystrophy" - Awarded by Bethany’s Hope Leukodystrophy Research Foundation
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