Professor, Department of Pathology and Laboratory Medicine
Dr. Tony Rupar is a molecular geneticist researching the genetic causes of disease with goals to improve diagnosis, including newborn screening, and treatment of gene-related diseases and disorders.
Asset Map Keywords: Inborn Errors of Metabolism, Personalized Medicine, Rare Genetic Disorders --> (see more)
Specific Keywords and Techniques: Enzyme Assays, Leukodystrophy, Single Nucleotide Polymorphism Arrays
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.
Research Interest Area: Genetics
Research Overview: Pathophysiology/treatment approaches in mouse model of metachromatic leukodystrophy; Population genetics and ID of novel disease causing genes; Therapies for metachromatic leukodystrophy
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About Tony Rupar
Dr. Tony Rupar is a molecular geneticist researching the genetic causes of disease with goals to improve diagnosis, including newborn screening, and treatment of gene-related diseases and disorders.
Asset Map Keywords: Inborn Errors of Metabolism, Personalized Medicine, Rare Genetic Disorders --> (see more)
Specific Keywords and Techniques: Enzyme Assays, Leukodystrophy, Single Nucleotide Polymorphism Arrays
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.
Research Interest Area: Genetics
Research Overview: Pathophysiology/treatment approaches in mouse model of metachromatic leukodystrophy; Population genetics and ID of novel disease causing genes; Therapies for metachromatic leukodystrophy
| Present | Professor, Western University ‐ Department of Pathology and Laboratory Medicine | |
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| Present | Professor, Western University ‐ Department of Biochemistry | |
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| Present | Scientist, Lawson Health Research Institute ‐ Children's Health Research Institute (CHRI) | |
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Disciplines
Research Interests
Genetics, Animal Models, Genetic Diseases and Disorders, Newborn Screening, Rare Genetic Disorders, Inborn Errors of Metabolism, Personalized Medicine, Gene Therapy, Lysosomal Storage Disorders, Biomedical Research, Children's Health, Molecular Diagnostics, Genetic Determinants, and Neurodegenerative Diseases and Disorders