|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|
|IACC Strategic Plan Objective||2008||2009||2010||2011||2012||Total|
|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
|2.S.D. Funding: The recommended budget was met. Significantly more than the recommended minimum budget was allocated to projects specific to this objective.
Progress: A large number of projects were funded that address this objective. Investment in this area has doubled since 2009, and in 2013, NIH began funding an ACE center focused on tuberous sclerosis. Much is being learned about conditions related to autism that can be applied to autism. This objective is on track.
Remaining Gaps, Needs and Opportunities: The next step will be to translate findings in this area into clinically useful therapies.