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

Rare variant genetics, contactin-related proteins and autism  

Based on their recent findings the researchers propose to: 1) replicate the mutation burden analysis in CNTNAP2 and perform a similar preliminary study in patients with developmental delay but not social disability; 2) perform initial and, if warranted, replication studies of the other molecules disrupted by chromosomal abnormalities, Contactin 4 and Contactin Associated Protein 4 and 3) continue gene discovery efforts using both conventional and array based cytogenetics on the well-characterized patients recruited under Projects I-IV of this application focusing on the identification of rare, deleterious changes in chromosome structure.

2008

Funder National Institutes of Health
Fiscal Year Funding $330,463.00
Project Number P50MH081756-01
Principal Investigator State, Matthew
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective 3O. Not specific to Question 3 objectives
Federal or Private? Federal
Institution Yale University
State/Country Connecticut
Web Link 1 No URL available.
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects ACE Center: Rare variant genetics, contactin-related proteins and autism | $334,470.00 | 2010 | 5P50MH081756-03
ACE Center: Rare variant genetics, contactin-related proteins and autism | $334,236.00 | 2009 | 5P50MH081756-02