|Project Title||Principal Investigator||Institution|
|Elucidating the roles of SHANK3 and FXR in the autism interactome||Zoghbi, Huda||Baylor College of Medicine|
|Neural circuit deficits in animal models of Rett syndrome||Xiong, Qiaojie||Cold Spring Harbor Laboratory|
|The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development||Williams, Megan||University of California, San Diego|
|Regulation of synapse elimination by FMRP||Wilkerson, Julia||University of Texas Southwestern Medical Center|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health|
|Probing a monogenic form of autism from molecules to behavior||Tsien, Richard||Stanford University|
|TrkB agonist(s), a potential therapy for autism spectrum disorders||Sun, Yi||University of California, Los Angeles|
|Aberrant synaptic form and function due to TSC-mTOR-related mutation in autism spectrum disorders||Sulzer, David||Columbia University|
|Aberrant synaptic function caused by TSC mutation in autism||Sulzer, David||Columbia University|
|Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice||Sidorov, Michael||Massachusetts Institute of Technology|
|New approaches to local translation: SpaceSTAMP of proteins synthesized in axons||Segal, Rosalind||Dana-Farber Cancer Institute|
|Sex differences in early brain development; Brain development in Turner syndrome||Santelli, Rebecca||University of North Carolina at Chapel Hill|
|Visual system connectivity in a high-risk model of autism||Sahin, Mustafa||Children's Hospital Boston|
|Olfactory abnormalities in the modeling of Rett syndrome||Ronnett, Gabriele||Johns Hopkins University|
|Proteomics in drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo study||Reiss, Allan||Stanford University|
|MeCP2 modulation of BDNF signaling: Shared mechanisms of Rett and autism||Pozzo-Miller, Lucas||University of Alabama at Birmingham|
|Angelman syndrome (AS)||Percy, Alan||University of Alabama at Birmingham|
|Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions||Parada, Luis||University of Texas Southwestern Medical Center|
|L-type calcium channel regulation of neuronal differentiation||Panagiotakos, Georgia||Stanford University|
|Role of intracellular mGluR5 in fragile X syndrome and autism||O'Malley, Karen||Washington University in St. Louis|
|Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome||Lin, Michael||Stanford University|
|The role of MeCP2 in Rett syndrome||LaSalle, Janine||University of California, Davis|
|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|
|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.