Tony Rupar
Professor
Biochemical Geneticist
PhD, University of Western Ontario
FCCMG, Canadian College of Medical Geneticists
Office: LHSC VH E3-208
Phone: (519) 685-8500 ext. 71558
Fax: (519) 858-1063
E-mail: tony.rupar@lhsc.on.ca
Clinical Activities
Keywords: Clinical biochemical genetics, Newborn Screening, Inborn errors of metabolism
Description of clinical activities: I am the Section Head at the Biochemical Genetics Laboratory, Pathology and Laboratory Medicine, London Health Sciences Centre. I help to ensure the quality of our laboratory's results and oversee validation of new methods. I also act as a consultant for both physicians and laboratory staff regarding laboratory tests.
Research Activities
Keywords:
Description of Research Activities: The research activities of my laboratory are directed at understanding the causes of human biochemical genetic diseases, developing new diagnostic procedures and treatments.
Current projects in my laboratory focus on leukodystrophy (MLD), an autosomal recessively inherited neurodegenerative disorder. Delivery of genetic health care and the use of single nucleotide polymorphism arrays and exome sequencing to identify the causes of novel genetic diseases. Development of diagnostic enzyme assays for lysosomal storage diseases using dried blood dot specimens in place of whole blood or tissue biopsy specimen which is especially beneficial in pediactrics.
