Dr. Katherine A. Siminovitch < Back Next >
WHO: Principal Investigator; Sherman Family Research Chair in Genomic Medicine; Canada Research Chair; Professor in the Departments of Medicine, Immunology, Medical Genetics and Microbiology, University of Toronto; Director of The Fred A. Litwin Family Centre for Genetic Medicine, Mount Sinai Hospital & University Health Network; Director of the Immunogenomics Program, McLaughlin Centre for Molecular Medicine, University of Toronto.
WHAT: Dr. Siminovitch is an acclaimed leader in genomic medicine. “Genomics” refers to the collective technologies emanating from the Human Genome Project.
Dr. Siminovitch uses unique mouse models and studies with human patients to characterize the genes that regulate normal immune responses, and define the mechanisms whereby certain proteins contribute to immune system function and disease development. In addition, she is employing various genetic approaches to identify the gene variants responsible for inflammatory bowel disease and rheumatoid arthritis.
In 1994, Dr. Siminovitch discovered a genetic marker for Wiskott-Aldrich syndrome (WAS), a rare inherited disorder of the immune system characterized by recurrent, often lethal infections. The average individual with WAS lives about four years; those who survive into adolescence often develop cancer. The genetic test Dr. Siminovitch developed became widely used to provide carrier prediction and prenatal diagnostics. Since the disease can be cured if a bone marrow transplant is given before the age of 1 or 2, the ability to predict, screen for and diagnose the disease has had a tremendous impact on families who carry the genetic defect.
In 2004 Dr. Siminovitch received international attention for isolating a gene that puts people at greater risk of developing Crohn’s when it malfunctions. Recently, Dr. Siminovitch and her colleagues discovered a new genetic pathway that could provide personalized treatment options for patients with a devastating liver disease, primary biliary cirrhosis. The study also offers hope in treating other autoimmune diseases such as rheumatoid arthritis.
WHY: Genomics are the source of sophisticated, rapidly evolving tools and information which will radically change the practice of medicine. Genomic medicine and research is a critical step towards improved diagnosis and developing improved therapies.
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