Grant: Operating Grant

Autism is perhaps the most handicapping disorder of childhood. It is caused largely by genetic factors but few of the many genes that lead to the disorder have been discovered. Most studies investigating the genetic etiology of autism have focused on affected sibpairs or singletons, but these approaches are limited by the amount of genetic information available. New and innovative genetic studies are needed that can account for the missing heritability associated with autism. We are studying extended multi-generation pedigrees where there are several members that either have autism or some milder, genetically related, trait. So far, we have collected 26 such pedigrees and are collaborating with an American team who have another 13. In this renewal, we propose to complete data collection of both clinical information and DNA from key members of these families. We have developed new methods of linkage analysis that will allow us to take full advantage of all the clinical information available. We feel that this design is much more likely to lead to the discovery of the genes that cause inherited forms of autism than traditional designs for studying complex genetic disorders. Discovering these genes will go a long way towards developing novel and effective biomedical treatments.