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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

Autism subtypes by gene characterization

Principal Investigator

Principal Investigator

Eichler, Evan

Description

Description

The goal of Evan Eichler’s project is to define high-impact genes and mutations associated with sporadic autism. Using molecular inversion probe (MIP) technology, Eichler and his colleagues plan to resequence the protein-coding sequence of 200 autism candidate genes in 8,588 participants who have autism or intellectual disabilities, from eight diagnostic centers worldwide. The researchers aim to focus on the discovery of spontaneous, or de novo, loss-of-function mutations, including smaller copy number variants and recurrent protein-altering missense mutations. Deeper characterization of autism genes may expand the number of individuals associated with each gene and provide information on how to prioritize variation that might emerge from future genome-sequencing projects. Studying these patients will also provide clues as to whether subtypes of autism may be distinguished both at the genetic and clinical levels.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

368757

Current Award Period

Current Award Period

2014-2016

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 3SA. Coordinate and implement the inclusion of approximately 20,000 subjects for genome-wide association studies, as well as a sample of 1,200 for sequencing studies to examine more than 50 candidate genes by 2011. Studies should investigate factors contributing to phenotypic variation across individuals that share an identified genetic variant and stratify subjects according to behavioral, cognitive, and clinical features. IACC Recommended Budget: $43,700,000 over 4 years.

Project Link

Project Link

Autism subtypes by gene characterization (External web link)

Institution

Institution

University of Washington

State/Country

State/Country

Washington

Project Number

Project Number

303241

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Autism subtypes by gene characterization | 318824 | 2015 | 303241

 
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