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

Caspr2 dysfunction in autism spectrum disorders  

In rare cases, autism spectrum disorder (ASD) appears to be linked to mutations in single genes which have particularly severe consequences for neural development. Analysis of the functional properties of single-gene mutations leading to autism is critical for understanding the shared cellular and molecular pathways onto which ASD-linked mutations converge. Recently, novel mutations in the gene encoding the neuronal protein Caspr2 were identified in a large group of ASD patients. The proposed research will investigate the role of Caspr2 in neurodevelopment, using the mouse as a model system. Employing a variety of biochemical and cellular techniques, the study will examine the effect of the ASD-linked mutations in Caspr2 on the development of the brain and its synapses. This study will further understanding of how mutations in a single gene contribute to ASD, providing new insights into the causes of ASD and potential new therapeutic targets for the treatment of this disorder. Project Status


Funder Autism Speaks
Fiscal Year Funding $0.00
Current Award Period 2008-2010
Project Number 4835
Principal Investigator Robbins, Elissa
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 Yale University
State/Country Connecticut
Web Link 1 Caspr2 dysfunction in autism spectrum disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Caspr2 dysfunction in autism spectrum disorders | $28,000.00 | 2009 | 4835
Caspr2 dysfunction in autism spectrum disorders | $28,000.00 | 2008 | 4835