|Project Title||Principal Investigator||Institution|
|Cell-based genomic analysis in mouse models of Rett syndrome||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism||DiDonato, Christine||Children's Memorial Hospital, Chicago|
|Visual system connectivity in a high-risk model of autism||Sahin, Mustafa||Children's Hospital Boston|
|Probing disrupted cortico-thalamic interactions in autism spectrum disorders||Fagiolini, Michela; Chen, Chinfei||Children's Hospital Boston|
|Presynaptic fragile X proteins||Akins, Michael||Brown University|
|In-vivo imaging of neuronal structure and function in a reversible mouse model for autism.||Ash, Ryan||Baylor College of Medicine|
|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.