The Autism Genome Project is a pan-Canadian and international consortium designed to characterize autism susceptibility genes within the human genome and the mechanisms governing their actions. Studies indicate that autism is primarily a genetic condition that can be caused by single genes, multiple genes acting together, or chromosomal rearrangements, all necessitating a genomic approach to study the underlying mechanisms and pathophysiology of autism. As such, new genome scanning technologies, databases, and data analysis programs are also being implemented around this project.

Autism is a severe neurodevelopmental disorder, mainly affecting children, that is characterized by impairments in social communication and a preference for repetitive activities. It is one of a group of disorders (called autism spectrum disorders or ASDs) that share these characteristics but differ in course, symptom pattern or level of functioning. Recent studies indicate that as many as 1 in 165 children in Canada are afflicted with ASD, making it one of the most common forms of developmental disability of childhood.

The project involves screening genomes from over 6000 members of 1600 families affected by ASD in order to locate where the susceptibility genes reside on the chromosomes and will utilize genomics to identify disease-associated genes. The project team is utilizing approaches such as genome-wide linkage studies and copy number variation (CNV) analyses to study ASD. Copy number variations CNV may include deletions and duplications, translocations, or inversions of chromosomes. Approximately 40 cytogenetically detectable chromosome rearrangements have already been identified and publicly released on the Autism Chromosome Rearrangement Database, available at http://projects.tcag.ca/autism/.  Also available on the database are over 270 CNVs discovered by the team to be present in autism spectrum discorder families but not in controls. 

The CNV findings of the project are already being transferred to hospital-based clinical diagnostic laboratories in Canada and other countries. In addition, the Autism Chromosome Rearrangement Database, developed by the project, serves as a valuable resource for the autism research community. The project team is also leading initiatives to improve support for families affected by autism and also to increase investment into autism research.