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International Rett Syndrome Foundation awards $2M for cutting-edge Rett syndrome research


Steven Gray PhD, University of North Carolina at Chapel Hill
rAAV-Mediated Replacement of the MeCP2 Gene in a Rett Syndrome Mouse Model

Gene-replacement therapy of MeCP2 is a potential future treatment option for Rett syndrome patients. The proposed study focuses on overcoming two critical issues that are likely to impede clinical translation of MeCP2 gene-replacement therapy using viral vectors. These are; transferring enough of the gene into the brain to make a difference and limiting the likely adverse impact of MeCP2 over-expression. Dr. Gray is a talented young investigator who has clearly demonstrated his ability to perform the proposed work and is associated with an excellent team in the area of virus-mediated gene transfer for CNS diseases.

Heekyung Hong PhD, Northwestern University
Genetic Dissection of of Rett Syndrome: a Screen for Modifiers of MeCP2 in the mouse

This proposal seeks to discover potential genes that could modify the course and/or severity of Rett syndrome in a Mecp2-null mouse model. The project will examine novel signaling elements that may alter MeCP2-dependent transcriptional regulation. This is a project that has a potentially high-impact since it may yield novel therapeutic targets for the treatment of Rett Syndrome.

Daniel Kilpatrick PhD, University of Massachusetts Medical School
Transcriptional Dys-Regulation in Rett Syndrome

This proposal will investigate a gene which is involved in regulating the downstream targets of MeCP2. Previous work has shown that the gene, called Rest, is upregulated in Rett syndrome and is thought to contribute to the spectrum of down-regulated genes in the CNS of Rett patients and in Mecp2-deficient mice. Dr. Kilpatrick will generate new 'knock-out' mouse models targeting the Rest gene and will use other techniques to decrease levels of the gene, with the goal of rescuing features of Rett syndrome in MeCP2

Contact: Dr. Antony Horton
International Rett Syndrome Foundation

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