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

Ren's project addresses a very important complication of Rett syndrome, seeking to better understand the specific neuronal components, pathways and circuits controlling respiratory dysfunction. The study focuses on the respiratory circuit rhythm generator which is thought to function abnormally in Rett syndrome. While this rhythm generator can function normally during sleep, during wakefulness, it is believed that certain neuronal circuits are dysfunctional and fluctuations within specific regions of the cortex can destabilize the basic respiratory rhythm. The PI will analyze potential sources of central respiratory pattern instabilities to identify the specific circuits and pathways involved.

Yin Shen PhD University of California, San Diego (Mentor Bing Ren, PhD)
Genomic analysis of MECP2 Function

Dr. Shen will conduct an investigation into the action of MECP2 at its various different target-binding sites across the entire human genome. The study will specifically examine MeCP2 binding in stem cells both before and after these cells are encouraged to become neuronal cells. Dr. Shen will study the consequences of MECP2 knockdown at different target sites with a view to identifying critical target genes. The investigator will examine early stage neuronal precursors, and developing neurons to evaluate the epigenetic interactions of MECP2 at successive stages of development.

Anirban Paul PhD, Cold Spring Harbor Laboratory (Mentor Z. Josh Wang, PhD)
Novel Function of MeCP2 in mRNA Regulation and Implication in Rett Syndrome

Dr. Paul's project is aimed at testing a novel hypothesis related to the function of MeCP2. The investigator's preliminary data presents an entirely new facet of MeCP2 function which is that MeCP2 can function by binding directly to messenger RNA (mRNA) and potentially regulates the synthesis of downstream proteins. The project may provide new insights into the role of MeCP2 and
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Contact: Dr. Antony Horton
212-459-2608
International Rett Syndrome Foundation
Source:Eurekalert

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