Strategic Plan Objective Detail
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Question 2: Short-term Objective D  

Fiscal Year: 2010

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.

Download 2010 Question 2: Short-term Objective D projects (EXCEL)
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Project Title Principal Investigator Institution
Allelic choice in Rett syndrome Donohoe, Mary Winifred Masterson Burke Medical Research Institute
The role of intracellular metabotropic glutamate receptor 5 at the synapse Hogan, Carolyn Washington University in St. Louis
Role of intracellular mGluR5 in fragile X syndrome and autism O'Malley, Karen Washington University in St. Louis
Establishing zebrafish as a model for RAI1 gene dosage Elsea, Sarah; Lister, James Virginia Commonwealth University
Genetic and developmental analyses of fragile X syndrome Broadie, Kendal Vanderbilt University
The mechanism and significance of Evf ncRNA regulation of the DLX genes Kohtz, Jhumku University of Washington
Regulation of synapse elimination by FMRP Wilkerson, Julia University of Texas Southwestern Medical Center
Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome Gibson, Jay University of Texas Southwestern Medical Center
Coordinated control of synapse development by autism-linked genes Huber, Kimberly University of Texas Southwestern Medical Center
Study of fragile X mental retardation protein in synaptic function and plasticity Huber, Kimberly University of Texas Southwestern Medical Center
Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model Huber, Kimberly University of Texas Southwestern Medical Center
Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions Parada, Luis University of Texas Southwestern Medical Center
Proteomics in drosophila to identify autism candidate substrates of UBE3A Reiter, Lawrence University of Tennessee Health Science Center
Functional circuit disorders of sensory cortex in ASD and RTT Carlson, Gregory University of Pennsylvania
A longitudinal MRI study of brain development in fragile X syndrome Hazlett, Heather University of North Carolina at Chapel Hill
Sex differences in early brain development; Brain development in Turner syndrome Santelli, Rebecca University of North Carolina at Chapel Hill
Regulation of 22q11 genes in embryonic and adult forebrain Lamantia, Anthony University of North Carolina at Chapel Hill
The microRNA pathway in translational regulation of neuronal development Gao, Fen-Biao University of Massachusetts Medical School
Synaptic phenotype, development, and plasticity in the fragile X mouse Cox, Charles University of Illinois at Urbana Champaign
Molecular basis of autism associated with human adenylosuccinate lyase gene defects Colman, Roberta University of Delaware
The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development Williams, Megan University of California, San Diego
TrkB agonist(s), a potential therapy for autism spectrum disorders Sun, Yi University of California, Los Angeles
BDNF and the restoration of spine plasticity with autism spectrum disorders Gall, Christine University of California, Irvine
Genotype-phenotype relationships in fragile X families Hagerman, Randi University of California, Davis
The role of MeCP2 in Rett syndrome LaSalle, Janine University of California, Davis