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

16p11.2: defining the gene(s) responsible  

What causes autism? This question has been a topic of debate that has been stirring in the media for the past few years. What is clear is that parents usually notice signs of autism in the first few years of life, and clinicians diagnose autism based on behavioral criteria such as repetitive movements, restricted interests, and poor social interactions. Scientists have discovered that autism has a genetic basis, as children with autism seem to be either missing- or have extra copies of certain portions of their chromosomes. One of the best examples, discovered by Mike Wigler's group at Cold Spring Harbor, is deletion of a portion of human chromosome 16 that includes the genes that are blue prints for 28 different proteins. Is this just a coincidence, or does having too few of these 28 proteins really cause autism? We directly asked this question by creating mice that were missing the same 28 genes. Remarkably, these mice have unique behaviors and unusual brain architectures that demonstrate that deletion of this 28-gene region causes autism-like features. It is possible that one of these 28 genes is responsible for autism. Another possibility is that several of these genes, when missing, lead to autism. We will directly test these possibilities by creating mice that are missing only some of the 28 genes, and asking if they behave the same and have the same brain alterations as the mice that are missing the entire 28-gene region. These studies will allow us to identify the single gene--or alternatively the group of genes--that when missing causes autism. Once we know this, it is possible to design better ways to diagnose and treat children with autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $175,000.00
Current Award Period 2010-2013
Project Number 177886
Principal Investigator Mills, Alea
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.
Federal or Private? Private
Institution Cold Spring Harbor Laboratory
State/Country New York
Web Link 1 16p11.2: defining the gene(s) responsible (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects 16p11.2: defining the gene(s) responsible | $350,000.00 | 2011 | 177886
16p11.2: defining the gene(s) responsible | $350,000.00 | 2012 | 177886