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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Characterization of brain and behavior in 7q11.23 duplication syndrome-Project 1

Principal Investigator

Principal Investigator

Crawley, Jacqueline

Description

Description

Duplication of a small segment of human chromosome 7 has been found in some children with autism. Lucy Osborne and her colleagues at the University of Toronto aim to understand the effects of duplication of this region, 7q11.23, on the growth and function of the brain. They plan to study this using a mouse model with a similar duplication. Osborne and her team have generated mice with duplications of eight genes from the critical region, as well as mice with a duplication of a single, important candidate gene, GTF2I. The researchers plan to test the model mice for behaviors that are relevant to autism in humans, such as abnormal social interaction, impaired communication and repetitive behaviors. They also plan to use magnetic resonance imaging to look at brain structure and examine how neurons from the mice grow and function in culture. Because brain tissue from individuals with the 7q11.23 duplication is not available, Osborne and her team plan to use a new technique to reprogram human blood cells into stem cells so that in the future they can be grown into neurons in culture. If successful, this technique will allow the researchers to study neurons from people with 7q11.23 duplication syndrome, even without direct access to their brain tissue. Findings from these experiments will be related to the results of a Simons Foundation Autism Research Initiative project, directed by Carolyn Mervis at the University of Louisville in Kentucky, examining the characteristics of children with 7q11.23 duplication syndrome. Together, these projects could contribute to the growing understanding of the biology of autism and help build a picture of how features in autism arise from genetic alterations.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

103684

Current Award Period

Current Award Period

2013-2015

Strategic Plan Question

Strategic Plan Question

Question 4: Which Treatments And Interventions Will Help?

Strategic Plan Objective

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.

Project Link

Project Link

Characterization of brain and behavior in 7q11.23 duplication syndrome-Project 1 (External web link)

Institution

Institution

University of California, Davis

State/Country

State/Country

California

Project Number

Project Number

234798JC

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Characterization of brain and behavior in 7q11.23 duplication syndrome-Project 1 | 90713 | 2013 | 234798JC
Characterization of brain and behavior in 7q11.23 duplication syndrome-Project 1 | 90696 | 2014 | 234798JC

 
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