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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Genomic identification of autism loci

Principal Investigator

Principal Investigator

Eichler, Evan

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

1139256

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 1: When Should I Be Concerned?

Strategic Plan Objective

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.

Project Link

Project Link

Genomic identification of autism loci (External web link)

Institution

Institution

University of Washington

State/Country

State/Country

Washington

Project Number

Project Number

1R01HD065285-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

Genomic identification of autism loci | 1483822 | 2010 | 5R01HD065285-02

 
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