|Project Title||Principal Investigator||Institution|
|Neuronal activity-dependent regulation of MeCP2||Greenberg, Michael||Harvard Medical School|
|Neural circuit deficits in animal models of Rett syndrome||Xiong, Qiaojie||Cold Spring Harbor Laboratory|
|Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions||Parada, Luis||University of Texas Southwestern Medical Center|
|Molecular basis of autism associated with human adenylosuccinate lyase gene defects||Colman, Roberta||University of Delaware|
|Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome||Lin, Michael||Stanford University|
|MicroRNAs in synaptic plasticity and behaviors relevant to autism||Kelleher, Raymond||Massachusetts General Hospital|
|MeCP2 modulation of BDNF signaling: Shared mechanisms of Rett and autism||Pozzo-Miller, Lucas||University of Alabama at Birmingham|
|L-type calcium channel regulation of neuronal differentiation||Panagiotakos, Georgia||Stanford University|
|In-vivo imaging of neuronal structure and function in a reversible mouse model for autism.||Ash, Ryan||Baylor College of Medicine|
|Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice||Sidorov, Michael||Massachusetts Institute of Technology|
|Genotype-phenotype relationships in fragile X families||Hagerman, Randi||University of California, Davis|
|Genetic and developmental analyses of fragile X syndrome||Broadie, Kendal||Vanderbilt University|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|Functional circuit disorders of sensory cortex in ASD and RTT||Carlson, Gregory||University of Pennsylvania|
|Establishing zebrafish as a model for RAI1 gene dosage||Elsea, Sarah; Lister, James||Virginia Commonwealth University|
|Elucidation and rescue of amygdala abnormalities in the Fmr1 mutant mouse model of fragile X syndrome||Corbin, Joshua||George Washington University|
|Elucidating the roles of SHANK3 and FXR in the autism interactome||Zoghbi, Huda||Baylor College of Medicine|
|Development of novel diagnostics for fragile X syndrome||Hosono, Seiyu||JS Genetics, Inc.|
|Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model||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|
|Coordinated control of synapse development by autism-linked genes||Huber, Kimberly||University of Texas Southwestern Medical Center|
|Cellular and molecular alterations in GABAergic inhibitor circuits by mutations in MeCP2||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Cell-based genomic analysis in mouse models of Rett syndrome||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|BDNF and the restoration of spine plasticity with autism spectrum disorders||Gall, Christine||University of California, Irvine|
|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.