IDENTIFICATION OF AN AUTISM SUSCEPTIBILITY LOCUS ON CHROMOSOME 2Q

Autism is a disorder of brain development, which affects about 2 individuals in 1000. People with autism have problems with social interaction, as well as difficulties in communication and language, and may show repetitive or obsessive behaviours. The symptoms become apparent within the first three years of age and last throughout a person’s life. There is no cure for autism, although an early diagnosis, together with appropriate behavioural and educational interventions, may improve the clinical course. The specific causes of autism are not known, however, it is well established that there is a strong genetic predisposition, probably due to the combined action of several genes. At present it remains unclear how many genes are implicated, their identity or function. Our research group is a member of an international collaborative team, which collected a large number of families with two or more affected children and performed genetic studies to “scan” the whole genome and localise chromosome areas where genes involved in autism may be found. One of the most promising results from genetic studies is on the long arm of chromosome 2, a region that we are now further investigating. In this region are located several genes that are good candidates for autism, based on their putative role in brain development and function. Focussing on these genes and using a combination of approaches, we aim to identify the genetic variants predisposing to autism. This goal will be a fundamental step in understanding the pathological mechanisms underlying autism, and will provide a basis for developing better methods of diagnosis, prevention and possibly treatment.