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Clinical and Metabolic Genetics
Clinical and Metabolic Genetics

Our history

A clinical genetics service was established at The Hospital for Sick Children in 1947 by Dr. Norma Ford Walker then led by Dr. Margaret Thompson, author of the seminal textbook for training physicians and other health care practitioners – Thompson & Thompson’s Genetics in Medicine. This service has since evolved into the Division of Clinical and Metabolic Genetics and headed for the first 10 years by Dr. Joe Clarke and then Dr. Rosanna Weksberg.

In 1990, medical genetics was approved as a training program by the Royal College of Physicians and Surgeons. The first Ministry-of Health-funded training positions were secured in 1993. The training program has benefited from strong support by the Department of Paediatrics.

One of the Division's major accomplishments was the development of a Maternal Phenylketonuria (PKU) program. Among other things, this program has enabled a seamless transition in the care of adult women with phenylketonuria, an inherited metabolic disorder, from SickKids to The Toronto General Hospital. This experience has benefited the development of transition care for adolescents with genetic disorders. The Division provides continuity of care to families by working closely with allied clinics at Mount Sinai (Prenatal Diagnosis and Medical Genetics Clinics headed by Dr. David Chitayat) and also actively promotes the development of an adult genetics program at University Health Network – Toronto General Hospital.

In recognition of his research achievements in developmental genetics, Division member Dr. Rod McInnes was appointed an International Scholar of the Howard Hughes Foundation in 1997. Other achievements of the Division's include the recently published 2nd edition textbook titled A Clinical Guide to Inherited Metabolic Diseases, by Metabolic Genetics Section Head Dr. Joe Clarke, and the book entitled Overgrowth Syndromes, by Division Chief Dr. Rosanna Weksberg.

Since its inception, the Division has made particularly important strides in the care of children with inborn errors of metabolism. The Genetic Metabolic Diseases Program was originally established by the late Dr. Andrew Sass-Kortsak as a Program in the Department of Paediatrics in the early 1970s. In 1986, it became incorporated into the newly formed Division of Clinical and Metabolic Genetics of the Department of Paediatrics. Many of the activities of the Program grew out of research activities, and these formed the basis for the development of sophisticated diagnostic laboratory services, particularly relating to lysosomal storage diseases and mitochondrial disorders.