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A Critical Assessment of Autism Genetics

The NLM Family Foundation provided support for a meeting, entitled, “A Critical Assessment of Autism Genetics” hosted by the Banbury Center at Cold Spring Harbor Laboratory, which focused on emerging data in autism genetics. Although twin and family studies have demonstrated a strong genetic etiology, it has been difficult to identify susceptibility genes for autism that are influencing a majority of patients. There is increasing optimism about identifying susceptibility genes due to larger numbers of families being assessed, consortia being formed, and the development of better phenotype assessment and family history tools. Additionally, new technologies have been developed to perform high density genetic marker studies as well as assess the whole genome for alterations not detected by traditional methods. This meeting focused on clinical considerations, whole genome genetic studies, candidate genes and regional association studies, chromosomal abnormalities and statistical genetics. It brought together a prestigious, international group of researchers at an opportune time to critically assess our understanding of the genetic basis of autism and future directions for research in this area.