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

CRCNS: Ontology-based multi-scale integration of the autism phenome  

Finding genetic variants that predispose and regulate brain-related disorders has become a significant area of neuroscience research. However, limited success has been achieved with mental disorders such as autism, partly due to the difficulty in identifying endophenotypes, or intermediate phenotypes, of the disorder. Phenomics - the systematic cataloging of phenotypes on a genome-wide scale - has emerged as a scientific endeavor within psychiatric genetics to address this challenge. A limitation to the advancement of phenomics, however, is the lack of available methods and tools for modeling, managing, and reasoning about endophenotypes. This project will develop the Phenologue, a novel knowledge-based technology that can support collaborative efforts to acquire, manage, and reason about a disease phenome given experimental data and published findings. Among the project's research objectives are to develop an ontology of endophenotypes that maps brain connectivity, neural deficits, and genetic markers to develop logic-based methods to encode and classify endophenotypes, and to create tools to acquire new endophenotypes and annotate phenotype-genotype findings in online resources such as published literature. The research will help develop an autism ontology for the National Database for Autism Research (NDAR). Project Status


Funder National Institutes of Health
Fiscal Year Funding $328,680.00
Current Award Period 2009-2012
Project Number 5R01MH087756-02
Principal Investigator Das, Amarendra
Received ARRA Funding? No
Strategic Plan Question Question 7: What Other Infrastructure and Surveillance Needs Must Be Met? (Infrastructure)
Subcategory Data Tools
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 7O. Create an information resource for ASD researchers (e.g., PhenX Project) to share information to facilitate data sharing and standardization of methods across projects by 2013. o This includes common protocols, instruments, designs, and other procedural documents and should include updates on new technology and links to information on how to acquire and utilize technology in development. o This can serve as a bidirectional information reference, with autism research driving the development of new resources and technologies, including new model systems, screening tools, and analytic techniques. IACC Recommended Budget: $2,000,000 over 2 years.
Federal or Private? Federal
Institution Stanford University
State/Country California
Web Link 1 CRCNS: Ontology-based multi-scale integration of the autism phenome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects CRCNS: Ontology-based multi-scale integration of the autism phenome | $345,180.00 | 2009 | 1R01MH087756-01