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

Genomic identification of autism loci  

This proposal will explore the hypothesis that autism is caused by highly-penetrant, rare mutations using emerging technologies that screen gene regions for autism-specific copy-number variation (CNV) mutations and DNA point mutations. The study will focus on 17 genomic regions (carrying 83 genes) and an additional 87 genes where copy-number changes and point mutations have been associated with autism. The screening and analysis will be applied to 1320 families with one or more children with autism using the Autism Genetic Resource Exchange (AGRE) and Simons Simplex Collection (SSC) for samples. A comprehensive assessment of 20 autism genomes will also be conducted. This proposal will develop a systematic strategy to identify mutations and genes associated with autism and will optimize new technology for the characterization of patient genomes for pathogenic copy-number variation and point mutations associated with complex genetic disease. This research could lead to early diagnosis in children as well as the genetic classification of different causes of autism. Such subcategorizations of autism could aid development of treatments and interventions for autism. Project Status


Funder National Institutes of Health
Fiscal Year Funding $1,139,256.00
Project Number 1R01HD065285-01
Principal Investigator Eichler, Evan
Received ARRA Funding? Yes
Strategic Plan Question Question 1: When Should I Be Concerned? (Diagnosis)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 1SB. Validate and improve the sensitivity and specificity of new or existing screening and diagnostic tools, including comparison of general developmental screening versus autism-specific screening tools, in both high risk and population-based samples through studies of the following community populations that are diverse in terms of age, socio-economic status, race, ethnicity, characteristics of ASD, and general level of functioning by 2012. IACC Recommended Budget: $5,400,000 over 3 years.
Federal or Private? Federal
Institution University of Washington
State/Country Washington
Web Link 1 Genomic identification of autism loci (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Genomic identification of autism loci | $1,483,822.00 | 2010 | 5R01HD065285-02