Press Releases

Monica Coenraads
Director of Research, RSRF
Monica Coenraads
203.243.5733 RSRF Awards Twenty New Research Projects for 2006

August 15, 2006

The Rett Syndrome Research Foundation (RSRF) has awarded 15 new grants and five new postdoctoral fellowship awards to foster research on the genetic causes of Rett Syndrome and specific aspects of its pathology. RSRF's funding commitment for 2006 is $2.3 million.

In the past seven years scientists have gone from thinking of MeCP2 strictly as a transcriptional repressor to realizing that it has complex functions at multiple levels. The scope of funded projects is an accurate reflection of our current state of knowledge: over half of the twenty projects are designed to yield insight into MeCP2 function, whether at the level of gene silencing, finding MeCP2 target genes, studying chromatin or heterochromatin alterations, or looking at MeCP2 effects in neurons themselves. Two grants were awarded to study the functions of Cdkl5, a second, recently discovered genetic cause of Rett-like symptoms. Four more grants were awarded to investigators trying to understand the seizures and respiratory dysrhythmias that are such a prominent part of the Rett phenotype in both humans and mice. And, looking to the future, two awards will focus on reversing the phenotype of Rett Syndrome in mouse models and finding the windows of opportunity for treating the disease.

"Although we still have a long way to go to understand exactly what MeCP2 does in the brain, it's exciting that scientists are already using various mouse models of MeCP2 dysfunction to probe some of the practical difficulties that beset children with Rett, such as seizures and breathing abnormalities," said Monica Coenraads, Director of Research. "By fostering basic research on a wide range of topics, we are moving closer toward disease-modifying therapies that will improve quality of life for those afflicted with Rett as well as their families."

Founded in 1999, RSRF is committed to supporting research that will lead to treatments and an eventual cure for Rett Syndrome. The Foundation has awarded over $11 million to date to leading labs around the world.

Research Awards

Yves Alain Barde
University of Basel
Using neurons generated from embryonic stem cells: MeCP2 targets and BDNF

Adrian Bird
University of Edinburgh
Testing for Phenotypic Reversibility in a Mouse Model of RTT

Vania Broccoli
San Raffaele Scientific Institute (Italy)
Production and first analysis of an animal model for the "early seizure" RTT variant: conditional inactivation of the murine Cdkl5 gene

Michael Crair
Baylor College of Medicine
Examining the role of MeCP2 in regulating the plasticity and development of synapses and circuits in mouse somatosensory barrel cortex

Gregory David
New York University School of Medicine
Contribution of altered heterochromatic to the pathogenesis of Rett Syndrome

John Greer/Gregory Funk
University of Alberta
Investigation of Respiratory Dysfunction in Mouse Models of RTT

Mark Groudine
Fred Hutchinson Cancer Research Center
In vivo characterization of MeCP2B protein interactions in human neuronal cells by quantitative FT-ICR mass spec

Rudolf Jaenisch
Whitehead Institute
Identification of critical time points for treatment in RTT disease progression and genome-wide analysis of distribution of MeCP2 in gene promoters regions

James Kadonaga
UCSD
Dynamics and Function of MeCP2 in Chromatin and Transcription

Charlotte Kilstrup-Nielsen
University of Insubria (Italy)
Functional characterization of CDKL5, a novel gene involved in the onset of RTT

Jan-Marino Ramirez
University of Chicago
The effects of aminergic reuptake inhibitors on erratic breathing in MECP2 mutant mice

Gordon Shepherd
Northwestern University
Role of MECP2 in neocortical synaptic circuit organization

Hongjun Song
Johns Hopkins University
Roles of MeCP2 in regulating synaptic integration and maintenance of newborn neurons in the adult brain

Juan Young
Centro de Estudios Cientificos-CECS (Chile)
MeCP2's function in post-translational regulation of gene expression

Xinyu Zhao
University of New Mexico
Effect of MeCP2 mutation in neuronal maturation and function in heterozygote females

Post Doctoral Fellowship Awards

Megumi Adachi
University of Texas Southwestern Medical Center at Dallas
Identification and characterization of MeCP2 target genes involved in synaptic transmission

Ichiro Hiratani
SUNY
The effect of MeCP2 Deficiency on Epigenetic Regulation in Neuronal Lineages

Denis Jugloff
Hospital for Sick Children
Serotonergic activity and seizure susceptibility in a mouse model of RTT

Alysson Mutori
Salk Institute
The contribution of MeCP2 to L1 retrotransposition and the generation of neuronal diversity:consequences for neuronal function and RTT phenotype

Zilong Qiu
UCSD
The role of MeCP2 in dendritic growth and spine development on cortical neurons