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

Pathway-based genetic studies of autism spectrum disorder  

Autism spectrum disorders have a strong genetic component, with an estimated heritability of greater than 90%, but many genes associated with autism have not yet been identified. In this study, the full spectrum of genetic variations associated with autism, both rare and common, will be analyzed in a gene function and pathway-based approach. Incorporating the known functions and interactions of the affected genes, Dr. Bucan and colleagues will identify the molecular functions and pathways that are enriched in this set of genes. Two types of genetic variation will be considered: single nucleotide polymorphisms, where one base pair of deoxyribonucleic acid (DNA) is mutated, and gene copy number variants, where multiple copies of genes are inserted into the genomic DNA. Project Status


Funder Autism Speaks
Fiscal Year Funding $60,000.00
Project Number 6286
Principal Investigator Bucan, Maja
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 University of Pennsylvania
State/Country Pennsylvania
Web Link 1 Pathway-based genetic studies of autism spectrum disorder (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Pathway-based genetic studies of autism spectrum disorder | $34,437.00 | 2010 | 6286
Pathway-based genetic studies of autism spectrum disorder | $60,000.00 | 2008 | 6286