|Project Title||Principal Investigator||Institution|
|Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model||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|
|Coordinated control of synapse development by autism-linked genes||Huber, Kimberly||University of Texas Southwestern Medical Center|
|Quantitative proteomic approach towards understanding and treating autism||Jin, Peng||Emory University|
|MicroRNAs in synaptic plasticity and behaviors relevant to autism||Kelleher, Raymond||Massachusetts General Hospital|
|Translation regulation in hippocampal LTP and LTD||Klann, Eric||New York University|
|The mechanism and significance of Evf ncRNA regulation of the DLX genes||Kohtz, Jhumku||University of Washington|
|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|
|The role of MeCP2 in Rett syndrome||LaSalle, Janine||University of California, Davis|
|Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome||Lin, Michael||Stanford University|
|Role of intracellular mGluR5 in fragile X syndrome and autism||O'Malley, Karen||Washington University in St. Louis|
|L-type calcium channel regulation of neuronal differentiation||Panagiotakos, Georgia||Stanford University|
|Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions||Parada, Luis||University of Texas Southwestern Medical Center|
|Angelman syndrome (AS)||Percy, Alan||University of Alabama at Birmingham|
|MeCP2 modulation of BDNF signaling: Shared mechanisms of Rett and autism||Pozzo-Miller, Lucas||University of Alabama at Birmingham|
|Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo study||Reiss, Allan||Stanford University|
|Proteomics in drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|Olfactory abnormalities in the modeling of Rett syndrome||Ronnett, Gabriele||Johns Hopkins University|
|Visual system connectivity in a high-risk model of autism||Sahin, Mustafa||Children's Hospital Boston|
|Sex differences in early brain development; Brain development in Turner syndrome||Santelli, Rebecca||University of North Carolina at Chapel Hill|
|New approaches to local translation: SpaceSTAMP of proteins synthesized in axons||Segal, Rosalind||Dana-Farber Cancer Institute|
|Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice||Sidorov, Michael||Massachusetts Institute of Technology|
|Aberrant synaptic function caused by TSC mutation in autism||Sulzer, David||Columbia University|
|Aberrant synaptic form and function due to TSC-mTOR-related mutation in autism spectrum disorders||Sulzer, David||Columbia University|
|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.