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International Rett Syndrome Foundation awards $2M for cutting-edge Rett syndrome research

, PhD
Alfred I. DuPont Hospital for Children/Nemours Children's Clinic at the University of Delaware Preclinical testing of nonsense suppression in a rodent model of Rett syndrome

Dr. Schanen has previously developed mouse "knock-in" models of the R168X and R255X non-sense Rett syndrome mutations. The project will further generate colonies of the two knock-in mouse models and ultimately the new mouse models will be used to test a lead series of read-through compounds. The successful testing of these drugs could potentially result in a pharmacological reversal of Rett syndrome. This study would have an enormous impact upon the field and has clear implications for treatment of the disease.

Yi Eve Sun PhD, University of California at Los Angeles, David Geffen School of Medicine
The role of microRNA dysregulation in MeCP2-deficient neurons

The field of epigenetics has recently identified a set of small molecules called "micro-RNAs." These are thought to be critically important regulators that fine tune and modulate the function of different proteins and essential cellular processes. The aim of this project is to test the novel hypothesis that MeCP2 might regulate different sets of "micro-RNAs" in different neuronal subsets within the brain and which may have functional consequences as a whole. The proposal by Dr. Sun presents a clear set of experiments that will further our understanding of the basic mechanisms underlying Rett syndrome and could identify novel targets for therapeutic manipulation.

John Vincent PhD, The Centre for Addiction & Mental Health, University of Ottawa
Comparative Functional Studies Of The Two MeCP2 Isoforms, MeCP2_e1 and MeCP2_e2

This is a research proposal that aims to address the important question of which of the two common forms of MECP2 is most critical for brain development and function in the mouse. This is an interesting proposal that addresses a key as

Contact: Dr. Antony Horton
International Rett Syndrome Foundation

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