Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Integrative genetic analysis of autistic brains  

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. Project Status


Funder Simons Foundation
Fiscal Year Funding $200,000.00
Project Number 137603
Principal Investigator Arking, Dan
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
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.
Federal or Private? Private
Institution Johns Hopkins University School of Medicine
State/Country Maryland
Web Link 1 Integrative genetic analysis of autistic brains (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Integrative genetic analysis of autistic brains | $400,000.00 | 2010 | 137603
Integrative genetic analysis of autistic brains | $400,000.00 | 2011 | 137603
Integrative genetic analysis of autistic brains | $200,000.00 | 2012 | 137603