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International Rett Syndrome Foundation awards $2M for cutting-edge Rett syndrome research
Date:10/1/2009

mice. This project could therefore present a novel therapeutic target for Rett syndrome treatments.

Jeffrey Neul MD, PhD, Baylor College of Medicine
Characterization of cardiac abnormalities in Rett syndrome

This project will thoroughly investigate cardiac conduction abnormalities previously identified by Dr. Neul's team in Rett syndrome mice, which accurately model defects in Rett syndrome patients. The studies involve long-term, periodic heart monitoring coupled with a correlative analysis of potential MECP2 target genes. These studies may explain the long QT syndrome seen as a consequence of Rett syndrome. Dr. Neul will further this work by developing a conditional knock-out mouse to better determine if MeCP2 loss in neuronal vs. cardiomyocyte cell types is the origin of the observed conduction defects. The innovative aspect of the study is its focus on evaluating the effects of Mecp2 dysfunction outside the CNS, in particular in the heart, an aspect that has not yet been thoroughly explored. In addition, it could help to understand the basis for the proposed autonomic dysfunction that may be the cause for sudden unexplained death in this population.

N. Carolyn Schanen, MD, PhD
Alfred I. DuPont Hospital for Children/Nemours Children's Clinic at the University of Delaware Suppression of Rett Nonsense Mutations by Pharmacological Agents

Dr. Schanen will conduct a study that seeks to better understand the pharmacological properties of drugs which suppress nonsense mutations. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The study will examine a lead series of "read-through" compounds, and will provide valuable information on their mechanism of action within cells. These read-through compounds hold great promise for the treatment of individuals who possess nonsense mutations in the MECP2 gene.

N. Carolyn Schanen, MD
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Contact: Dr. Antony Horton
212-459-2608
International Rett Syndrome Foundation
Source:Eurekalert

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