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

improve quality of life and could provide the path to an eventual cure for Rett syndrome." Dr. Horton added: "These new studies will generate fresh insights that will enable us to better understand the mechanisms underlying Rett Syndrome. While there are no quick fixes, we will continue to be aggressive in our search for new treatments for the eventual pharmacological reversal of Rett Syndrome."

Regular Research Grants:

Nurit Ballas PhD, Stony Brook University
Analyzing the contribution of MeCP2-defficient oligodendrocyte-lineage cells to Rett syndrome neuropathology

Previous findings suggest that non-neuronal cell populations of the brain may be involved in causing the full spectrum of Rett syndrome symptoms, given that knocking out MeCP2 in neurons results in only a partial model of Rett syndrome. To date, studies have focused on neurons as the primary cause of Rett syndrome due to their high levels of MeCP2 and the difficulty to detect MeCP2 in glial cells in the brain. New detection techniques have been used in preliminary studies that suggest MeCP2 is present in certain glial cell types and that they may contribute to neuronal dysfunction in Rett syndrome by secreting factors that are potentially harmful to neurons. This proposal seeks to assess the role of MeCP2 loss in glial cells called oligodendrocytes and study how it contributes to the neuropathology of Rett syndrome. Developing the appropriate cellular models will help prove or disprove the real contribution of glial cells in Rett syndrome pathogenesis. In addition the study aims to further investigate possible secondary factors that could be manipulated to positively affect the course of Rett syndrome.

James Eubanks PhD, Toronto Western Research Institute
Assessing Phenotypic Improvement of MeCP2-Deficient Mice By Preservation or Reactivation of Functional MeCP2 in Catecholaminergic Cells

Dr. Eubanks proposes to deter
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Contact: Dr. Antony Horton
212-459-2608
International Rett Syndrome Foundation
Source:Eurekalert

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