Project Detail
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Identifying genetic modifiers of rett syndrome in the mouse  

Rett Syndrome is an autism-related disorder that affects primarily girls and has a prevalence of 1 in 10,000 births. Restoring function of the gene responsible for Rett Syndrome, Mecp2, to mutant mice allows them to live normal, healthy lives, even after symptoms have developed. This is hopeful news for patients, highlighting a potential for reversing the disease by pharmacologic means. Unfortunately, Mecp2 is not a promising drug target, as a genetic trick that would be impossible in humans is required to restore function in mice. Our lab has undertaken a genetic screen in which we randomly mutated a second genomic site in Mecp2-mutant mice to locate more pharmacologically targetable genes. From this screen, we have identified five lines carrying inherited suppressors that increase lifespan and decrease other Rett Syndrome related symptoms in Mecp2-mutant mice. This project focuses on characterizing the two mutations present in the line that show the greatest degree of rescue - one of which, we believe, provides great therapeutic promise. In the process of assessing the degree of rescue for each line, we will evaluate the brain structures altered in Rett Syndrome to determine the degree to which neuronal maturation deficits are rescued. Furthermore, we will use established mouse behavior tests to assess the extent to which the suppressors alter cognitive ability and motor function. Understanding the suppressors at a functional molecular level may provide an avenue for development of therapeutic compounds applicable to multiple types of autism spectrum disorders. Project Status


Funder Autism Science Foundation
Fiscal Year Funding $30,000.00
Current Award Period 2010-2011
Project Number n/a
Principal Investigator Buchovecky, Christine
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 Baylor College of Medicine
State/Country Texas
Web Link 1 Identifying genetic modifiers of rett syndrome in the mouse (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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