Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Genetic and developmental analyses of fragile X syndrome  

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. Project Status


Funder National Institutes of Health
Fiscal Year Funding $532,205.00
Project Number 1R01MH084989-01A1
Principal Investigator Broadie, Kendal
Received ARRA Funding? Yes
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 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.
Federal or Private? Federal
Institution Vanderbilt University
State/Country Tennessee
Web Link 1 Genetic and developmental analyses of fragile X syndrome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Genetic and developmental analyses of fragile X syndrome | $544,592.00 | 2010 | 5R01MH084989-02