|Project Title||Principal Investigator||Institution|
|Regulation of 22q11 genes in embryonic and adult forebrain||Lamantia, Anthony||University of North Carolina at Chapel Hill|
|Autism iPSCs for studying function and dysfunction in human neural development||Loring, Jeanne||Scripps Research Institute|
|An investigation of neuropsychological endophenotypes in autism and fragile X||Martin, Gary Everett||University of North Carolina at Chapel Hill|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||Morris, Jill||Children's Memorial Hospital, Chicago|
|Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions||Parada, Luis||University of Texas Southwestern Medical Center|
|Clinical correlations of contiguous gene syndromes||Potocki, Lorraine||Baylor College of Medicine|
|Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo-controlled randomized study of donepezil||Reiss, Allan||Stanford University|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A (supplement)||Reiter, Lawrence||University of Tennessee Health Science Center|
|Identification of UBE3A substrates using proteomic profiling in Drosophila||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|
|Connectopathic analysis of autism||Sanes, Joshua||Harvard University|
|Sex differences in early brain development: Brain development in Turner syndrome||Santelli, Rebecca Knickmeyer||University of North Carolina at Chapel Hill|
|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|
|TrkB agonist(s), a potential therapy for autism spectrum disorders||Sun, Yi||University of California, Los Angeles|
|Probing a monogenic form of autism from molecules to behavior||Tsien, Richard||Stanford University|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health (NIH)|
|The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development||Williams, Megan||University of California, San Diego|
|Neural circuit deficits in animal models of Rett syndrome||Xiong, Qiaojie||Cold Spring Harbor Laboratory|
|White matter connections of the face processing network in children and adults||Yoon, Jennifer||Stanford University|
|Elucidating the roles of SHANK3 and FXR in the autism interactome||Zoghbi, Huda||Baylor College of Medicine|
|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.