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Gene Finding
Discovering New Genes Associated with Autism
The Gene Finding group is working to help define the genetic architecture of autism. The approach includes identifying genetic variations that contribute to autism, the genes that they affect and the phenotypic manifestations that they produce. Recognizing that the variety of manifestations of autism spectrum disorders likely reflect an underlying genetic heterogeneity, this gene discovery effort is utilizing some of the largest patient populations collected to date, as well as a growing local cohort of deeply phenotyped families.
The researchers are exploring the contributions of mutations in genes, cytogenetically detected chromosomal rearrangements, rare causal mutations in novel genes and pathways, common genetic variations that contribute risk, and recurrent submicroscopic chromosomal abnormalities. Researchers are also undertaking a comprehensive deep re-sequencing program using new cutting edge technology to identify the range and nature of genetic variants that contribute to ASD susceptibility.
We assembled a multi-institutional group of scientists and researchers who are identifying genes involved in autism. By working collaboratively these researchers have identified several genetic mutations associated with autism spectrum disorders. Our researchers have published several papers in high profile journals including:
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In October 2009 in Nature, Autism Consortium researchers reported on a gene association analysis in collaboration with Johns Hopkins University that identified several interesting SNPs associated with autism.
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In July 2008 in Science, researchers reported a half a dozen new genes implicated in autism, using homozygosity mapping in a Middle Eastern population.
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In January 2008 in The New England Journal of Medicine, AC researchers reported using the new Affymetrix GeneChip Human Mapping 500K array to scan the DNA of over 3,000 individuals that identified a missing or duplicated piece of chromosome 16 containing 25 genes, a chromosome not previously associated with ASDs. The microdeletion/duplication in chromosome 16 makes an individual 100 times more likely to have an ASD.
Members (Past and Present)