Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Recessive genes for autism and mental retardation  

Some genes are directly linked to a greater risk of autistic disorders, whereas others may be recessive — meaning that the disorder only occurs in individuals with 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. Dr. Walsh and his colleagues have come up with an unconventional approach to studying these elusive genes. The researchers work with doctors in Middle Eastern countries to identify families with multiple affected individuals. In these countries, marriage between blood relatives is common, so rare recessive mutations are often shared by many family members. Families from more isolated regions of the countries also frequently share genetic similarities because they are descended from the same small group of ancestors. This clustering effect boosts the researchers' chances of identifying rare disease-linked mutations. Researchers have extended their studies to autism, enrolling more than 150 families with autism from Kuwait, Oman, Pakistan, Turkey, and Saudi Arabia, diagnosing children using standard tests for autism, and collecting and analyzing DNA samples from the children and their parents. Project Status


Funder Simons Foundation
Fiscal Year Funding $293,376.00
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? (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.
History/Related Projects Recessive genes for autism and mental retardation | $148,856.00 | 2010 | SF09
Recessive genes for autism and mental retardation | $289,040.00 | 2008 | Project number unavailable
Recessive genes for autism and mental retardation | $0.00 | 2011 | SF09