U of T Crest Faculty of Medicine / University of Toronto
Department of Paediatrics
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Clinical and Metabolic Genetics
 > Department of Paediatrics > Divisions > Clinical and Metabolic Genetics

Clinical and Metabolic Genetics

Dr Roberto Mendoza- Division Head

The Division of Clinical and Metabolic Genetics provides consultative genetic services and ongoing care to children with genetic diseases and their families. The division's research activities centre on delineating the natural history and molecular basis of various genetic disorders, as well as developing screening tests for specific genetic metabolic diseases. In addition, a research focus has been developed in the area of patient consent and ethical issues related to the rapidly expanding field of genetic testing. The division administers three different training programs toward certification in Genetics. These include a Fellowship in the Canadian College of Medical Genetics, the Royal College of Physicians and Surgeons of Canada Fellowship in Medical Genetics and a Master of Science for Genetic Counselling.


In 1990, medical genetics was approved as a training program by the Royal College of Physicians and Surgeons. Between 1990 and 1993, the division's chief function was to train fellows in clinical genetics, and the first Ministry-of Health-funded positions were secured in 1993. The training program has benefited form strong support by the Department of Paediatrics.

One of the division's major accomplishments was the development in collaboration with the Fetal Diagnosis and Treatment program, 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 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. Another fruit of the division's research labours is textbook titled, "A Clinical Guide to Inherited Metabolic Diseases", written by past Division Head, Dr. Joe Clarke.

Since its inception, the division has made particularly important strides in the palliative care of children with terminal conditions.

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