|Project Title||Principal Investigator||Institution|
|MeCP2 modulation of BDNF signaling: Shared mechanisms of Rett and autism||Pozzo-Miller, Lucas||University of Alabama at Birmingham|
|MicroRNAs in synaptic plasticity and behaviors relevant to autism||Kelleher, Raymond||Massachusetts General Hospital|
|Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome||Lin, Michael||Stanford University|
|Molecular basis of autism associated with human adenylosuccinate lyase gene defects||Colman, Roberta||University of Delaware|
|Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions||Parada, Luis||University of Texas Southwestern Medical Center|
|Neural circuit deficits in animal models of Rett syndrome||Xiong, Qiaojie||Cold Spring Harbor Laboratory|
|Neuronal activity-dependent regulation of MeCP2||Greenberg, Michael||Harvard Medical School|
|Neuronal activity-dependent regulation of MeCP2 (supplement)||Greenberg, Michael||Harvard Medical School|
|New approaches to local translation: SpaceSTAMP of proteins synthesized in axons||Segal, Rosalind||Dana-Farber Cancer Institute|
|Olfactory abnormalities in the modeling of Rett syndrome||Ronnett, Gabriele||Johns Hopkins University|
|Presynaptic fragile X proteins||Akins, Michael||Brown University|
|Probing a monogenic form of autism from molecules to behavior||Tsien, Richard||Stanford University|
|Probing disrupted cortico-thalamic interactions in autism spectrum disorders||Fagiolini, Michela; Chen, Chinfei||Children's Hospital Boston|
|Proteomics in drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|Quantitative proteomic approach towards understanding and treating autism||Jin, Peng||Emory University|
|Regulation of 22q11 genes in embryonic and adult forebrain||Lamantia, Anthony||The George Washington University|
|Regulation of 22q11 genes in embryonic and adult forebrain||Lamantia, Anthony||University of North Carolina at Chapel Hill|
|Regulation of synapse elimination by FMRP||Wilkerson, Julia||University of Texas Southwestern Medical Center|
|Role of intracellular mGluR5 in fragile X syndrome and autism||O'Malley, Karen||Washington University in St. Louis|
|Sex differences in early brain development; Brain development in Turner syndrome||Santelli, Rebecca||University of North Carolina at Chapel Hill|
|Study of fragile X mental retardation protein in synaptic function and plasticity||Huber, Kimberly||University of Texas Southwestern Medical Center|
|Synaptic phenotype, development, and plasticity in the fragile X mouse||Cox, Charles||University of Illinois at Urbana Champaign|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||DiDonato, Christine||Children's Memorial Hospital, Chicago|
|The mechanism and significance of Evf ncRNA regulation of the DLX genes||Kohtz, Jhumku||University of Washington|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||University of Massachusetts Medical School|
|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.