Press Releases

Monica Coenraads
Director of Research, RSRF
Monica Coenraads
203.243.5733 August 15, 2005
The Rett Syndrome Research Foundation Commits A Record $2.2 Million for 2005 Research Awards

Over $11.1 Million Invested in High-Impact Research Since 2000

August 15, 2005 - The Rett Syndrome Research Foundation (RSRF) announced today that it has awarded $2.2 million to fund 17 cutting edge projects aimed at accelerating treatments and a cure for Rett Syndrome, a devastating neurological disorder diagnosed almost exclusively in girls. Awards include Grants of Excellence to Accelerate Rett Research (G.E.A.R.), Research Grants and Post-Doctoral Fellowships.

Children with Rett Syndrome (RTT) appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living.

"As both a parent to a child with Rett Syndrome and as Director of Research for RSRF I am most encouraged by the number of high quality proposals submitted to RSRF. We are privileged to support some of the most brilliant thinkers in the scientific community," stated Monica Coenraads, co-founder of RSRF.

Among the awards is an international collaboration between three laboratories specializing in gene therapy. Jude Samulski of the Gene Therapy Center at the University of North Carolina, James Ellis and Peter Dirk of the Hospital for Sick Children and the University of Toronto, and David Levin and Kerry Delaney of the University of Victoria will be working to speed the discovery timeline toward gene therapy applications for Rett Syndrome.

A G.E.A.R. was awarded to Juan Botas of Baylor College of Medicine for a dynamic project utilizing a fruit fly model system to identify molecular mechanisms capable of compensating for the misregulation caused by the mutated "Rett protein" called MeCP2. Dr. Botas has generated transgenic fruit flies that express both normal and mutated human MeCP2 protein. The goal is to screen for genetic modifiers that can compensate for non-functioning MeCP2. Once these factors are identified in the fruit fly further work will be carried out in mammalian cells to validate the findings and hopefully define therapeutic approaches. A second G.E.A.R. was awarded to Richard Goodman, Director of the Vollum Institute, a privately endowed research facility at the Oregon Health & Science University. Dr. Goodman has recently found that a relatively new class of molecule, called micro RNA, may regulate the production of MeCP2. Understanding how MeCP2 levels are modulated may yield insights into possible treatments.

"RSRF has the freedom and flexibility to fund riskier, forward-thinking projects that might not otherwise receive support from more conservative sources. RSRF therefore has the unprecedented opportunity to make a significant impact in the Rett Syndrome research field," said Craig Robertson, RSRF's Executive Director. "These awards would not been possible without the generosity and commitment of our donors, in particular our Research Sponsors. "

Founded in late 1999, RSRF is the world's leading private funder of biomedical research for Rett Syndrome. To view abstracts and lay summaries of each project please click here.

RSRF is pleased to award grants to the following researchers:

Grants of Excellence to Accelerate Rett Research

Juan Botas, Ph.D.
Baylor College of Medicine
Genetic approaches to identify compensatory mechanisms preventing or ameliorating Rett Syndrome pathogenesis
$361,020
Research Sponsor: Gordon and Anne Rich/Reading Rock, Inc.

Richard Goodman, M.D., Ph.D.
Vollum Institute, OHSH
Regulation of MeCP2 by CREB-induced microRNAs
$220,000


Research Grants

Gene Therapy Collaboration
Development of Gene Therapy Strategies for Rett Syndrome
$357,060

David B. Levin, Ph.D.
Department of Biology, University of Victoria
James Ellis, Ph.D.
Hospital for Sick Children, University of Toronto Jude Samulski, Ph.D.
Center for Gene Therapy, University of North Carolina


John Aletta, Ph.D.
University of Buffalo
Regulatory Control of Cellular MeCP2 Function
$100,000
Research Sponsor: Ford Motor Company

Ian Marc Bonapace, Ph.D.
University of Insubria (Italy)
The isolation of protein complexes involving MeCP2 and Np95: Understanding their roles in the structural organization of heterochromatin
$100,000
Research Sponsor: Pro Rett Ricerca

Uta Francke, M.D.
Stanford University
Is DLX5 a target of MeCP2 and, therefore, involved in Rett Syndrome?
$27,500
Research Sponsor: Eastern Development, LLC

Aristea Galanopoulou, M.D., Ph.D.
Albert Einstein College of Medicine
The role of the GABAergic system of the substantia nigra in the motor dysfunction of Rett Syndrome
$100,000

Peng Jin, Ph.D.
Emory University
Role of MeCP2 in small RNA-mediated gene regulation and identification of MeCP2-associated genomic regions using whole-genome BAC array
$100,000
Research Sponsor: Boston Wharf Company

David Katz, Ph.D.
Case Western
Maturation of BDNF-dependent respiratory neurons in MeCP2 mutants
$88,000
Research Sponsor: CIBC World Markets Corporation

Janine LaSalle, Ph.D.
UC Davis
Investigation of novel MeCP2 target genes regulating neuronal maturation
$100,000
Research Sponsor: American Commercial Claims Administrators, Inc.

Jeffrey Macklis, M.D., D.H.S.T
Harvard/Massachusetts General Hospital
Identification and analysis of target genes for the Rett Syndrome transcriptional repressor MECP2 in the developing cerebral cortex projection neurons
$100,000 Research Sponsor: Rett Syndrome Association of Massachusetts

David Paterson, Ph.D.
Children's Hospital, Boston
The medullary serotonergic system and respiratory dysfunction in Rett Syndrome $25,000 (Pilot Project)


Thomas Seyfried, Ph.D.
Boston College
Gene-environmental interactions in the metabolic control of Rett Syndrome in Mecp2 mice using a ketogenic diet
$77,000
Research Sponsor: Connors Family Charitable Gift Fund

Yi Eve Sun, Ph.D.
UCLA
MeCP2 glycosylation and phosphorylation, the Yin and Yang aspects of MeCP2 post-translational modifications
$100,000
Research Sponsor: Robert and Adele Schiff Foundation

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Post-Doctoral Fellowships

Feixia Chu, Ph.D.
UCSF
Mentor: Barbara Panning and A.L. Burlingame
Unraveling aberrant epigenetic gene regulation in Rett Syndrome using mass spectrometry
$100,000

Gregory Pelka, Ph.D.
Children's Medical Research Institute, Australia
Mentor: John Christodoulou
Investigation of the impact of regionalized Mecp2 deficiency and the manifestation of the RTT phenotype using chimera analysis
$100,000

Georg Stettner, M.D.
Georg August University, Germany
Mentor: Peter Huppke
Analysis of breathing abnormalities in Rett patients and MeCP2 knockout mice and development of therapeutic strategies
$100,000