Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Small-molecule compounds for treating autism spectrum disorders  

Most cases of autism spectrum disorder are caused by defects in multiple genes, making the disorder particularly difficult to treat. In contrast, the loss of a single gene, UBE3A, causes a severe intellectual disability called Angelman syndrome, an autism spectrum disorder. Some forms of autism may also be caused by chromosomal duplications involving UBE3A. Ben Philpot, Mark Zylka and Bryan Roth at the University of North Carolina at Chapel Hill have developed a high- throughput method of finding small-molecule compounds that alter the expression of UBE3A. The researchers plan to take advantage of fluorescent markers to track the expression of the gene in cultured neurons and in animals. Bryan Roth has considerable drug discovery expertise and is the director of the Psychoactive Drug Screening Center at the National Institutes of Mental Health. Mark Zylka uses neurogenetic and molecular approaches to develop pain therapeutics. Ben Philpot is an electrophysiologist who has used mouse models of Angelman syndrome to pinpoint how single gene defects can impair the ability of the brain to encode new experiences. Through their combined efforts, the researchers plan to identify small molecules capable of altering UBE3A gene expression and test the potential therapeutic value of these molecules in mice. Their approach, if successful, could be used to find small molecules capable of adjusting the expression of various autism-related genes, thereby paving the way for autism therapeutics. Project Status


Funder Simons Foundation
Fiscal Year Funding $175,000.00
Current Award Period 2010-2013
Project Number 182831
Principal Investigator Philpot, Ben
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.
Federal or Private? Private
Institution The University of North Carolina at Chapel Hill
State/Country North Carolina
Web Link 1 Small-molecule compounds for treating autism spectrum disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Small-molecule compounds for treating autism spectrum disorders | $350,000.00 | 2011 | 182831
Small-molecule compounds for treating autism spectrum disorders | $350,000.00 | 2012 | 182831