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
Aberrant synaptic form and function due to TSC-mTOR-related mutation in autism spectrum disorders Sulzer, David Columbia University
Aberrant synaptic function caused by TSC mutation in autism Sulzer, David Columbia University
Activity-dependent phosphorylation of MeCP2 Ebert, Daniel Harvard Medical School
Allelic choice in Rett syndrome Donohoe, Mary Winifred Masterson Burke Medical Research Institute
A longitudinal MRI study of brain development in fragile X syndrome Hazlett, Heather University of North Carolina at Chapel Hill
Angelman syndrome (AS) Percy, Alan University of Alabama at Birmingham
Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo study Reiss, Allan Stanford University
BDNF and the restoration of spine plasticity with autism spectrum disorders Gall, Christine University of California, Irvine
Cell-based genomic analysis in mouse models of Rett syndrome Huang, Z. Josh Cold Spring Harbor Laboratory
Cellular and molecular alterations in GABAergic inhibitor circuits by mutations in MeCP2 Huang, Z. Josh Cold Spring Harbor Laboratory
Coordinated control of synapse development by autism-linked genes Huber, Kimberly 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
Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model Huber, Kimberly University of Texas Southwestern Medical Center
Development of novel diagnostics for fragile X syndrome Hosono, Seiyu JS Genetics, Inc.
Elucidating the roles of SHANK3 and FXR in the autism interactome Zoghbi, Huda Baylor College of Medicine
Elucidation and rescue of amygdala abnormalities in the Fmr1 mutant mouse model of fragile X syndrome Corbin, Joshua George Washington University
Establishing zebrafish as a model for RAI1 gene dosage Elsea, Sarah; Lister, James Virginia Commonwealth University
Functional circuit disorders of sensory cortex in ASD and RTT Carlson, Gregory University of Pennsylvania
Fundamental mechanisms of GPR56 activation and regulation Hall, Randy Emory University
Gene silencing in fragile X syndrome Usdin, Karen National Institutes of Health
Genetic and developmental analyses of fragile X syndrome Broadie, Kendal Vanderbilt University
Genotype-phenotype relationships in fragile X families Hagerman, Randi University of California, Davis
Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice Sidorov, Michael Massachusetts Institute of Technology
In-vivo imaging of neuronal structure and function in a reversible mouse model for autism. Ash, Ryan Baylor College of Medicine
L-type calcium channel regulation of neuronal differentiation Panagiotakos, Georgia Stanford University