Project Detail
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Office of Autism Research Coordination (OARC) logo

Novel models to define the genetic basis of autism  

Dr. Mills and her colleagues propose to develop a series of mouse models carrying chromosomal defects analogous to those seen in individuals with autism. The researchers plan to generate the mice using a molecular biology technique called chromosome engineering. After determining the boundaries of the affected area of the human chromosome, the researchers can replicate the genetic defect in mouse embryonic stem cells, which are then used to produce the mouse strain. Mills and colleagues propose to generate several mouse models, each corresponding to a different autism-linked chromosomal defect. The researchers will then analyze the mice for further genetic, physiological, and behavioral features. If any of the mice show symptoms analogous to those seen in people with autism, Mills and her team then plan to generate additional mice to home in on the specific genetic mutations that are causing the phenotype. These mouse models will allow researchers to study the consequences of autism-linked genetic alterations using experimental approaches that would not be feasible in the clinic. The mice could also eventually be used to screen potential drug treatments for autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $545,463.00
Project Number SF41
Principal Investigator Mills, Alea
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Interventions)
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 Novel models to define the genetic basis of autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Novel models to define the genetic basis of autism | $289,633.00 | 2010 | SF41
Novel models to define the genetic basis of autism | $800,694.00 | 2008 | Project number unavailable