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Clinical and Metabolic Genetics
Clinical and Metabolic Genetics

Research activities

Research in the Division of Clinical and Metabolic Genetics is focused on delineating genetic conditions, understanding their natural history, and defining the molecular basis of genetic disease. Collaborative links provide unique opportunities to unravel the many mysteries in genetics and medicine today. These include interactions with a variety of clinical departments as well as the Program in Genetics and Genome Biology and other programs in the Research Institute of The Hospital for Sick Children or through the University of Toronto.

Research endeavours in the Division are actively expanding in several areas including appraisal of population screening for familial dysautonomia and Canavan disease, trials of enzyme replacement therapies for selected metabolic disorders and studies of the role of genomic imprinting in overgrowth syndromes. A database has been established to track genetic diseases and mutations in the Arab population.