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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 Genome Project (AGP) Core Consortium

Principal Investigator

Principal Investigator

Vieland, Veronica

Description

Description

Launched in 2004, the Autism Genome Project is the largest study ever conducted to find the genes associated with inherited risk for autism. The project is a public/private research partnership involving approximately 50 academic and research institutions that have pooled their DNA samples in a collaborative effort. An initial AGP research project, Phase 1, was completed in 2007 and included linkage analysis in a sample of over 1,400 multiplex families - each with two or more individuals affected by autism spectrum disorders (ASDs). Extensive phenotypic information was gathered on the individuals in each family, creating the most comprehensive database of autism families at the time. The second AGP project, Phase 2, is Ongoing and will collect detailed information on a new sample of over 3,000 families, in which at least one child has an ASD. As a result of this research investigators have identified multiple rare mutations and estimated that approximately 15 per cent of individuals with an ASD have an identifiable genetic etiology. It is now known that a substantial proportion of genetic risk for ASDs resides in rare variants associated with high odds ratios for risk. These rare variants include variation across a broad range, from single base changes (point mutations), indels and microindels, CNVs, and larger chromosomal imbalances. The finding that rare variants have a role in ASDs represents a major step forward in understanding of the genetic architecture of ASDs. In the next phase (Phase 3) the AGP proposes a comprehensive set of studies that will lead to the discovery of new variations and the translation of the findings into clinical practice. The first objective of the Phase 3 Program will be to extend recently completed studies in 3,000 well-characterized ASD trios (Phase 2) and Ongoing high throughput sequencing of 1,200 samples from within this sample to provide large-scale confirmation of the autism risk factors identified by the AGP and to inform clinical practice guidelines. The second objective will be to establish a comprehensive list of genetic variants predisposing to ASDs. The only way to fully characterize the entire spectrum of variation in the human genome is by sequencing large numbers of individuals. This work will inform development of more comprehensive and available genome arrays for autism diagnostic approaches in the future.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

278113

Current Award Period

Current Award Period

2011-2012

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

Autism Genome Project (AGP) Core Consortium (External web link)

Institution

Institution

Nationwide Children's Hospital

State/Country

State/Country

Ohio

Project Number

Project Number

7568

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Autism Genome Project (AGP) Core Consortium | 50985 | 2011 | 7569
Autism Genome Project (AGP) Core Consortium | 0 | 2012 | 7568
Autism Genome Project (AGP) Core Consortium | 0 | 2012 | 7569

 
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