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

Regulation of 22q11 genes in embryonic and adult forebrain  

There is still little understanding of the relationship between genetic mutations and devastating behavioral disorders including autism, mental retardation, attention deficit/hyperactivity disorder (ADHD), mood disorders, and schizophrenia. This project focuses on a mutation that eliminates one out of two copies of a small number of genes on chromosome 22 resulting in a disorder known as DiGeorge, Velo-cardio-facial, or 22q11 Deletion Syndrome in which patients are at highly increased risk for these neurological and psychiatric diseases. The same mutation can be modeled in mice, and one can identify how reduced levels of this relatively small (32-50) set of genes disrupt brain development or function. Thus, these studies help explain how a specific mutation can lead to changes in brain development and function that may underlie autism, mental retardation, ADHD, mood disorders and schizophrenia. Project Status


Funder National Institutes of Health
Fiscal Year Funding $305,105.00
Project Number 2R01HD042182-06A2
Principal Investigator Lamantia, Anthony
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Federal
Institution University of North Carolina at Chapel Hill
State/Country North Carolina
Web Link 1 Regulation of 22q11 genes in embryonic and adult forebrain (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Regulation of 22q11 genes in embryonic and adult forebrain | $9,806.00 | 2010 | 5R01HD042182-07
Regulation of 22q11 genes in embryonic and adult forebrain | $313,000.00 | 2010 | 7R01HD042182-08