|Project Title||Principal Investigator||Institution|
|The mechanism and significance of Evf ncRNA regulation of the DLX genes||Kohtz, Jhumku||University of Washington|
|Translation regulation in hippocampal LTP and LTD||Klann, Eric||New York University|
|MicroRNAs in synaptic plasticity and behaviors relevant to autism||Kelleher, Raymond||Massachusetts General Hospital|
|Quantitative proteomic approach towards understanding and treating autism||Jin, Peng||Emory University|
|Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model||Huber, Kimberly||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|
|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|
|Development of novel diagnostics for fragile X syndrome||Hosono, Seiyu||JS Genetics, Inc.|
|The role of intracellular metabotropic glutamate receptor 5 at the synapse||Hogan, Carolyn||Washington University in St. Louis|
|A longitudinal MRI study of brain development in fragile X syndrome||Hazlett, Heather||University of North Carolina at Chapel Hill|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|Genotype-phenotype relationships in fragile X families||Hagerman, Randi||University of California, Davis|
|Neuronal activity-dependent regulation of MeCP2||Greenberg, Michael||Harvard Medical School|
|Neuronal activity-dependent regulation of MeCP2 (supplement)||Greenberg, Michael||Harvard Medical School|
|Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome||Gibson, Jay||University of Texas Southwestern Medical Center|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||J. David Gladstone Institutes|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||University of Massachusetts Medical School|
|BDNF and the restoration of spine plasticity with autism spectrum disorders||Gall, Christine||University of California, Irvine|
|Probing disrupted cortico-thalamic interactions in autism spectrum disorders||Fagiolini, Michela; Chen, Chinfei||Children's Hospital Boston|
|Establishing zebrafish as a model for RAI1 gene dosage||Elsea, Sarah; Lister, James||Virginia Commonwealth University|
|Activity-dependent phosphorylation of MeCP2||Ebert, Daniel||Harvard Medical School|
|Allelic choice in Rett syndrome||Donohoe, Mary||Winifred Masterson Burke Medical Research Institute|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||DiDonato, Christine||Children's Memorial Hospital, Chicago|
|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.