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

pect of the underlying biology of Rett syndrome and the findings have the potential to change the focus of research to a single MECP2 species. If successful, the results of this study will also help guide future developments with regard to MECP2 gene-targeted approaches to the treatment of Rett syndrome. Dr. Vincent proposes to compare the contribution of each variant form of MeCP2 to Rett syndrome. He will further explore the effect on gene expression, neuronal differentiation and maturation, development, cognition, and behavior in transgenic mice.

John Williams PhD, Oregon Health Sciences University
Dopamine cells and movement disorders: identifying a cellular basis for Rett syndrome

This proposal aims to look at cellular mechanisms that may underlie the motor deficits in Rett syndrome. Specifically, the investigators will examine the cellular structure and physiology of dopamine neurons in a region of the brain called the striatum. The investigator seeks to define the specific characteristics that distinguish the neurons that are Mecp2 positive and those that are Mecp2 negative. In Rett syndrome patients these two cell populations could be independently influencing different characteristics in one another. The investigator will then examine whether re-introducing Mecp2 to Mecp2 negative neurons improves their physiological characteristics. This proposal is well thought out, backed by strong preliminary data and feasible; the PI and environment are outstanding. It addresses an aspect of Rett syndrome that has not received a lot of attention, namely, the rapid regression of previously acquired motor skills and the onset of stereotyped and non-functional hand movements.

Xinyu Zhao PhD, University of New Mexico School of Medicine
Role of Mecp2-regulated microRNAs in the pathogenesis of Rett Syndrome

This is a strong collaborative proposal that seeks to understand how the dysregulation of one or mo
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Contact: Dr. Antony Horton
212-459-2608
International Rett Syndrome Foundation
Source:Eurekalert

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