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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 genetics: Homozygosity mapping and functional validation

Principal Investigator

Principal Investigator

Walsh, Christopher

Description

Description

ASDs show a large genetic component, with estimates of heritability as high as 60- 90%. However, the extreme heterogeneity of ASD is a persistent hurdle to gene discovery, and known genetic causes account for less than 15% of diagnoses. This study will analyse the DNA of consanguineous families (those where the parents share ancestry) diagnosed with ASD to locate regions of the genome likely to harbor the mutation that causes their ASD, and perform whole genome sequencing (WGS) on the affected individuals to identify candidate variants. High throughput methods of functionally validating strong candidate genes discovered through WGS using yeast models, transformed somatic cell lines, and other model systems will also be developed. Finally, to examine the effects of removing the genes discovered in this study on dendrite and dendritic spine morphology and synaptic activity, mouse models of candidate genes will be developed.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

850815

Current Award Period

Current Award Period

2012-2017

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 genetics: Homozygosity mapping and functional validation (External web link)

Institution

Institution

Boston Children's Hospital

State/Country

State/Country

Massachusetts

Project Number

Project Number

2R01MH083565-06

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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