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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

Integrative genetic analysis of autistic brains

Principal Investigator

Principal Investigator

Arking, Dan

Description

Description

Dr. Arking and his colleagues are taking a new approach to the search for autism risk genes, combining measurements of altered gene expression — obtained directly from brain tissue using high-throughput, next-generation sequencing — with other genetic data. The scientists recently found that some cases of autism can be linked to common sequence changes in the gene CNTNAP2, which codes for a protein that regulates signaling between neurons, and SEMA5A, which encodes a protein involved in neuron development. In neither gene do the sequence variations modify the proteins directly, suggesting that the risk for autism associated with these genes results from changes in the amount, timing or location of protein expression. To find more autism-associated genes, Arking and colleagues will screen autistic brains and controls for differences in genetic sequences, DNA methylation and gene expression. Arking's team plans to make all data and software publicly available, allowing other researchers to benefit from this study.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

200000

Current Award Period

Current Award Period

na

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

Integrative genetic analysis of autistic brains (External web link)

Institution

Institution

Johns Hopkins University School of Medicine

State/Country

State/Country

Maryland

Project Number

Project Number

137603

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Integrative genetic analysis of autistic brains | 400000 | 2010 | 137603
Integrative genetic analysis of autistic brains | 400000 | 2011 | 137603
Integrative genetic analysis of autistic brains | 200000 | 2012 | 137603

 
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