Indentification of a gene on human chromosome 7 causing autism

Erwin Schrödinger Fellowship J 1897 Identification of a gene on Chromosome 7 causing autism Erwin PETEK 06.03.2000 Autism is a severe and debilitating pervasive developmental disorder, characterized by impairments in communication and reciprocal social interaction coupled with preoccupations and repetitive behaviors. The population prevalence of classically defined autism is estimated to be about 4 in 10,000. There is now overwhelming evidence of the importance of genetic factors in etiology of this disease. In fact, evidence points towards autism as being one of the neuropsychiatric disorders most influenced by genetic factors. Recent molecular genetic studies have found a region on human chromosome 7 that likely contains a gene which when mutated causes autism. Using cloning techniques, we aim to identify this gene and develop a new research program in the molecular genetics of autism. The gene identification will provide insight into the basic molecular defect, allow for proper diagnosis and thoughtful family planning, and perhaps even lead to treatment for autism.