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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

Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder

Principal Investigator

Principal Investigator

Anderson, Matthew

Description

Description

Autism spectrum disorder (ASD) is a heterogeneous group of related behavioral disorders, characterized by deficits in three core domains: communication, social interaction, and repetitive behaviors. This project seeks to learn how Ube3a, a gene within the most common genetic copy number variant (CNV) found in ASD (maternal 15q11-13 duplication) affects the expression of other genes and their proteins to alter brain circuit functions underlying these behavioral disturbances. Recently, it has been found that that increasing Ube3a gene dosage alone reconstitutes the triad of autism-related behavioral deficits in mice. Thus it is hypothesized that excess Ube3a (15q duplication model) acts to perturb normal expression of specific neuronal genes and encoded proteins to alter circuit function and thereby generate autism-related behavioral deficits. This project will compare and contrast the defects in neuronal gene expression and circuit functions produced by altered Ube3a gene dosage that may underlie the behavioral phenotypes of ASD with maternal 15q11-13 duplication and Angelman's Syndrome (AS). This analysis will facilitate our efforts to bridge genes to circuits to behavior in the two contrasting human neurological diseases. The project promotes the agency's mission to further a deeper understanding of the neuronal cells, circuits, and genes involved in ASD and AS via genetic models. The novel molecular insights and genetic tools will facilitate development of therapeutic targets for these life-long behavioral disabilities.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

380625

Current Award Period

Current Award Period

2012-2017

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Project Link

Project Link

Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder (External web link)

Institution

Institution

Beth Israel Deaconess Medical Center

State/Country

State/Country

Massachusetts

Project Number

Project Number

1R01NS081916-01

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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