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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

Neurobiology of mouse models for human chr 16p11.2 microdeletion and fragile X

Principal Investigator

Principal Investigator

Bear, Mark

Description

Description

Autism is a pervasive developmental disorder characterized by impairment in social interaction and communication, and restricted repetitive and stereotyped behavior or interest. Fragile X syndrome and autism have overlapping clinical presentation, thus may share common biochemical and neurophysiological features. Human chromosome 16p11.2 microdeletion is the most common chromosome copy number variation (CNV) in autism. In this study, researchers will generate mice carrying a gene deletion to model human chr16p11.2 microdeletion phenotypes. We hypothesize that this gene deletion will cause synaptic pathophysiology that overlaps with Fragile X syndrome. This hypothesis will be tested in a battery of experiments that have been successfully conducted in Fragile X mice in our laboratory. Identifying the molecular commonalities between autism and Fragile X is vital in understanding the pathogenesis and providing effective therapies for both neurodevelopmental disorders.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

210000

Current Award Period

Current Award Period

2010-2012

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

Neurobiology of mouse models for human chr 16p11.2 microdeletion and fragile X (External web link)

Institution

Institution

Massachusetts Institute of Technology

State/Country

State/Country

Massachusetts

Project Number

Project Number

1R21MH090452-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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