Genetic link to autism identified

University of Toronto researcher leads groundbreaking study

by Arlene Clement

	University of Toronto.

An international study co-authored by a professor at the University of Toronto's Faculty of Medicine has discovered a new genetic link to autism.

Professor Stephen Scherer of molecular and medical genetics, along with Dr. Peter Szatmari of McMaster University, led the five-year research project that has uncovered the genetic underpinnings of the most common form of childhood developmental disability.

The research, released Feb. 18 in an advance online publication of the journal Nature Genetics, is the first part of a two-phase study run by the Autism Genome Project, an unprecedented initiative that brings together 137 of the leading geneticists, clinicians and genome scientists undertaking autism research at 50 academic institutions worldwide. Led by Scherer, the consortium analysed DNA from 1,600 families with autistic children to try to zero in on a specific group of brain cells and the genes that affect their development and function.

Their analysis led them to implicate a region on chromosome 11 as well as a gene known as neurexin 1, part of a family of genes believed to be important in communication between neurons, particularly during the brain's development.

The scientists don't know yet how the chromosome 11 region is involved in autism, which is believed to have multiple genetic and environmental factors. Pinpointing a specific gene that is linked to the disease is the object of the next phase of the research, beginning soon. In the short term, scientists hope this finding will lead to the development of a genetic test to help with early detection and treatment.

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