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

Project Title

Project Title

Genetic and developmental analyses of fragile X syndrome

Principal Investigator

Principal Investigator

Broadie, Kendal

Description

Description

Fragile X syndrome is a developmental brain disorder with abnormal neuron architecture and functional plasticity of the developing brain. It is the most commonly inherited form of both mental retardation and autism spectrum disorders (ASD). The proposed research will use the fruit fly as a model organism to study the molecular and cellular basis of disease, focusing particularly on the role of the Fragile X Mental Retardation Protein (FMRP). Various methods will test whether FMRP is required during a certain period of time in neural development and will assess the protein's role in synaptic neurotransmission during brain neural circuit development. Additionally, proteomic screens will determine the presence or absence of FMRP during specific periods of brain development. Forward genetics will be used to identify genes that interact with the dfmr1 gene to cause the disease phenotype. This proposal directly tests therapeutic interventions aimed at correcting ASD-relevant brain developmental abnormalities, and future studies could lead to promising drug therapies for people with fragile X or other autism-related disorders.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

544592

Current Award Period

Current Award Period

2009-2011

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

Genetic and developmental analyses of fragile X syndrome (External web link)

Institution

Institution

Vanderbilt University

State/Country

State/Country

Tennessee

Project Number

Project Number

5R01MH084989-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

Genetic and developmental analyses of fragile X syndrome | 532205 | 2009 | 1R01MH084989-01A1

 
Back to Top