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Rett Syndrome Mouse Models for Translational Research

Rett Syndrome (RTT) is a devastating neurological disorder affecting about 1 in 10,000 girls.  Despite tremendous progress over the past decade in finding the causative gene (MeCP2) and underlying disease mechanisms, there are still no effective treatments for RTT other than palliative support.  Recently, it has been shown that reactivation of MeCP2 in RTT mouse models can reverse many of the features of RTT raising hope that the disorder may be treatable in humans.  To capitalize on these exciting findings along with the availability of excellent RTT mouse models, the NINDS, the NICHD and the two private U.S. foundations that support RTT research (the International Rett Syndrome Research Foundation and the Rett Syndrome Research Trust) convened a workshop in September 2011 entitled ‘Setting Priorities for Therapy Development in Rett Syndrome’ (Bethesda, Maryland) to discuss how to optimize the predictive value of animal models in RTT preclinical research and avoid the pitfalls that often lead to failure on clinical translation.  On October 31, the outcomes of this workshop were published as an Open Access review article ( in Disease Models & Mechanisms ( The article comprehensively summarizes the phenotypes of currently available mouse models of RTT and discusses their utility for translational studies, highlights current knowledge gaps, and recommends best practice guidelines for preclinical study design that hopefully will optimize the ability of the RTT research community to translate basic findings into new therapeutic approaches.  

Last Modified November 2, 2012