Project Detail
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Office of Autism Research Coordination (OARC) logo

Recessive genes for autism and mental retardation  

The many mutations that underlie autism have different impacts on neuronal development and activity, making the genetics of the disorder a complicated puzzle. Some mutations can be so disruptive that a single copy is directly linked to a greater risk of developing autism, whereas other mutations may be recessive — meaning that the disorder only occurs in individuals who have two copies of the mutated gene, one from each parent. This type of heritability is more difficult to trace, as the mutations are often rare, and the parents do not show symptoms. Christopher Walsh and his colleagues at Harvard University propose to find these elusive recessive muta­tions in regions of the world where marriage between blood relatives — such as cousins — is common. Rare recessive mutations are often shared by many members of a family, and families in more isolated regions share other genetic similarities that boost the researchers' chances of mapping rare disease-linked mutations. Walsh and his colleagues are collaborating with doctors in Middle Eastern countries to identify families that have multiple individuals with autism. The researchers have enrolled more than 150 families in Kuwait, Oman, Pakistan, Turkey and Saudi Arabia. They have traveled to distant towns and villages to evaluate chil­dren for autism using standard tests, and then collected DNA samples from the children and their parents to identify autism-linked genes. In addition to using traditional genetic methods, the researchers are also capitalizing on advances in genome sequencing, including methods that sequence whole genomes and whole exomes — the protein-encoding regions of the genome — to detect mutations that traditional techniques may not uncover. The first report from this study, published in Science in 2008, identified several new autism-linked mutations. Analysis of these genes suggests that some of the mutations may have a common mechanism in disrupting changes in the synapse, the junction between neurons, after neuronal activity. Project Status


Funder Simons Foundation
Fiscal Year Funding $148,856.00
Current Award Period 2005-2011
Project Number SF09
Principal Investigator Walsh, Christopher
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Genetic Risk Factors
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Private
Institution Beth Israel Deaconess Medical Center
State/Country Massachusetts
Web Link 1 Recessive genes for autism and mental retardation (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Recessive genes for autism and mental retardation | $293,376.00 | 2009 | SF09
Recessive genes for autism and mental retardation | $289,040.00 | 2008 | Project number unavailable