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

NrCAM, a candidate susceptibility gene for visual processing deficits in autism  

NrCAM (neural cell adhesion molecule), an axon guidance molecule (human chromosome 7q31.1 – 31.2), has been recently identified in genetic association studies as a candidate susceptibility gene for autism spectrum disorders (ASD). Abnormal visual processing may be causally related to ASD deficits of eye gaze and interpretation of facial expression, which contribute to impaired social interaction and deficits in motion perception and movement toward visual stimuli. This project will provide insight into visual system development and its pathology associated with autism that may arise from mutations in the NrCAM gene. Dr. Maness will study mutant mice lacking NrCAM to investigate the hypothesis that NrCAM mediates formation of the precise connections between the axons from the retina and their targets in the brain. This will serve as a potentially new model for visual processing deficits in ASD. This project will use a variety of molecular techniques to characterize in detail what happens to connections from the eye to the brain when NrCAM function is disrupted. Abnormalities in visual processing may also impair social communication and motor responses, thus NrCAM mutant mice and controls will be analyzed for behaviors relevant to ASD, including impaired sociability, sensorimotor gating, and learning. Project Status
ONGOING

2010

Funder Autism Speaks
Fiscal Year Funding $0.00
Current Award Period 2007-2010
Project Number 1847
Principal Investigator Maness, Patricia
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 University of North Carolina at Chapel Hill
State/Country North Carolina
Web Link 1 NrCAM, a candidate susceptibility gene for visual processing deficits in autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects NrCAM, a candidate susceptibility gene for visual processing deficits in autism | $127,500.00 | 2009 | 1847
NrCAM, a candidate susceptibility gene for visual processing deficits in autism | $150,000.00 | 2008 | 1847