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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

Pieces of the Puzzle: Uncovering the Genetics of Autism

Principal Investigator

Principal Investigator

Daly, Mark

Description

Description

Autism genetics has made remarkable progress in the last few years with the discoveries about the role of de novo CNVs, loss-of-function point mutations, and common inherited DNA variation. Still, of the hundreds of genes that contribute to autism, only a handful of them have been conclusively identified because of limitations in sample size and statistical power- considerable challenges because of the prohibitive cost and time-consuming nature of patient recruitment, phenotypic assessment, and blood drawing. A groundbreaking collaboration between the Broad Institute and the iPSYCH program in Denmark provides the opportunity for a genome analysis of the largest single collection of samples from autism patients and matched controls to date. By combining a nationwide psychiatric registry (Danish Psychiatric Central Registry — documenting all inpatient (since 1969) and outpatient (since 1995) visits to public psychiatric treatment facilities) with DNA extracted from dried blood spots collected at birth on all Danish citizens since 1981 and stored in a single facility (Statens Serum Institut in Copenhagen), more than 15,000 cases of autism have been identified and are available for genomic analysis. We will utilize a dramatic advance in exome sequencing technology to perform deep exome analysis on 20,000 individuals at a dramatically lower price, thereby delivering the scale of data that should allow the identification of scores of autism genes.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

374636

Current Award Period

Current Award Period

2014-2018

Strategic Plan Question

Strategic Plan Question

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

Strategic Plan Objective

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.

Project Link

Project Link

No link available.

Institution

Institution

Broad Institute, Inc.

State/Country

State/Country

Massachusetts

Project Number

Project Number

342292

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Pieces of the Puzzle: Uncovering the Genetics of Autism | 1699790 | 2015 | 342292

 
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