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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

The role of germline mutation and parental age in autism spectrum disorders

Principal Investigator

Principal Investigator

Sebat, Jonathan

Description

Description

Based on CNV and exome-sequencing studies of autism spectrum disorders (ASD) it has been established that de novo germline mutation is an important contributor to risk, and ASD risk alleles have particularly high mutation rates. It is hypothesized that genes that contribute high risk for ASD generally lie within genomic regions of hypermutability. In this project, a whole-genome sequencing approach in families will be applied to identify genomic regions of hypermutability and determine the association of mutational hotspots with disease in a large independent sample. Intrinsic characteristics of the genome and extrinsic factors such as parental age that influence rates of germline mutation will be investigated. The findings of this study will yield fundamental insights into the genetic basis of ASD and the interplay between genes and environment.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

757596

Current Award Period

Current Award Period

2012-2016

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. 3SC. Initiate efforts to expand existing large case-control and other studies to enhance capabilities for targeted gene – environment research by 2011. IACC Recommended Budget: $27,800,000 over 5 years.

Project Link

Project Link

The role of germline mutation and parental age in autism spectrum disorders (External web link)

Institution

Institution

University of California, San Diego

State/Country

State/Country

California

Project Number

Project Number

2R01MH076431-07A1

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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