Autism Spectrum Disorder (ASD) is a childhood onset, lifelong disorder of brain development, in which impairments in social communication and behaviour impact significantly on the ability to function independently. Many individuals with ASD have other medical, psychiatric and developmental problems, which, coupled with the costs of current behavioural interventions, has significant implications for health and social care budgets. ASD therefore represents a major public health concern, and, as such, new treatments are urgently needed. Such treatments will undoubtedly emerge from a better understanding of what causes ASD. ASD is known to be caused by abnormalities at the level of a person's genes. Many of the genetic abnormalities identified so far are not inherited, and therefore do not explain why ASD tends to run in families. Also, there is now evidence that certain psychiatric and developmental disorders, including ASD, may be caused, in part at least, by the same genetic factors. In this application, I plan to combine two methods to identify new inherited genes that cause ASD. First, I will use a technique called linkage that identifies regions of the chromosomes that are shared statistically more often than by chance among those members of a pedigree that have the disorder of interest ('genetic linkage'). I will examine which regions are shared among family members who have either ASD or another mental health diagnosis ('the phenotypes'). Additionally, and separately, I will examine genetic linkage for several quantitative traits known to be associated with one or more psychiatric/developmental disorders. I will use the linkage information to identify which region(s) on the chromosomes to examine further. Subsequently, established and novel methods will be used to examine the genetic sequences of selected family members within these linked regions to identify nucleotides (the building blocks of our chromosomes) that may confer susceptibility to the phenotypes.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
