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

re micro-RNAs may be involved in the defects in neuronal maturation in Rett syndrome. This is a novel line of investigation with potentially high-impact results. The investigators have expertise in MeCP2 biology and strong preliminary data on two specific micro-RNAs that suggests these are the key microRNAs that are dysregulated in Rett syndrome with functional consequences and are very relevant to neuronal development. In the final phase of her project, Dr. Zhao will also conduct experiments that are aimed at functional rescue which lends a therapeutic aspect to this study.

Post Doctoral Fellowships

Cassiano Carromeu, PhD University of California San Diego (Mentor Alysson Muotri PhD)
Modeling Rett Syndrome with human pluripotent stem cells

Dr. Carromeu's project will be carried out in the laboratory of Dr. Alysson Muotri who has recently developed induced pluripotent stem cells (iPSCs) from Rett patients'skin cells. These iSPCs have been derived from patients with different MeCP2 mutations, and with different clinical phenotypes. The reprogrammed cells can generate a virtually unlimited supply of human neurons and other neural cell types of interest. In preliminary work, Dr. Carromeu showed that neurons generated this way displayed reduced synaptic contacts which are consistent with neuronal alterations seen in Rett syndrome. This model system will now be used for testing drugs to rescue these cellular alterations and to investigate developmental changes seen in Rett syndrome. Dr. Carromeu's mentor is the recent recipient of an NIH "New Innovator award." Dr. Muotri's research program seeks to use Rett syndrome as a model for other autism-spectrum disorders, this may reveal common molecular and cellular mechanisms present in different types of autism.

Jun Ren PhD, University of Alberta (Mentor John Greer PhD)
Investigation of Respiratory Dysfunction in a Mouse Model of Rett Syndrome

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

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