|Project Title||Principal Investigator||Institution|
|Role of neuroligins in long-term plasticity at excitatory and inhibitory synapses||Engelman, Holly||Albert Einstein College of Medicine of Yeshiva University|
|Role of excitation and inhibition in Rett syndrome||Chao, Hsiao-Tuan||Baylor College of Medicine|
|Elucidating the roles of SHANK3 and FXR in the autism interactome||Zoghbi, Huda||Baylor College of Medicine|
|Clinical correlations of contiguous gene syndromes||Potocki, Lorraine||Baylor College of Medicine|
|Visual system connectivity in a high-risk model of autism||Sahin, Mustafa||Children's Hospital Boston|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||Morris, Jill||Children's Memorial Hospital, Chicago|
|Cellular and molecular alterations in GABAergic inhibitor circuits by mutations in MeCP2||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Neural circuit deficits in animal models of Rett syndrome||Xiong, Qiaojie||Cold Spring Harbor Laboratory|
|Cell-based genomic analysis in mouse models of Rett syndrome||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Cell type-based genomics of developmental plasticity in cortical GABA interneurons||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Aberrant synaptic function caused by TSC mutation in autism||Sulzer, David||Columbia University|
|Neuroligin regulation of central GABAergic synapses||Fu, Zhanyan||Duke University|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|Connectopathic analysis of autism||Sanes, Joshua||Harvard University|
|The microRNA pathway in translational regulation of neuronal development||Gao, Fen-Biao||J. David Gladstone Institutes|
|Olfactory abnormalities in the modeling of Rett syndrome||Ronnett, Gabriele||Johns Hopkins University|
|An adult brain-specific mouse model of neuronal TSC inactivation||Kelleher, Raymond||Massachusetts General Hospital|
|Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice||Sidorov, Michael||Massachusetts Institute of Technology|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health (NIH)|
|Translation regulation in hippocampal LTP and LTD||Klann, Eric||New York University|
|Autism iPSCs for studying function and dysfunction in human neural development||Loring, Jeanne||Scripps Research Institute|
|Synaptic analysis of neuroligin 1 function||Fuccillo, Marc||Stanford University|
|White matter connections of the face processing network in children and adults||Yoon, Jennifer||Stanford University|
|Probing a monogenic form of autism from molecules to behavior||Tsien, Richard||Stanford University|
|Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo-controlled randomized study of donepezil||Reiss, Allan||Stanford 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.