Press Releases

Monica Coenraads
Director of Research, RSRF
Monica Coenraads
203.243.5733 August 18, 2004
The Rett Syndrome Research Foundation Commits A Record $2 Million for 2004 Research Awards
Since 2000 RSRF has committed over $ 6.5 Million to funding the world's most promising Rett Syndrome research.

August 18, 2004 - The Rett Syndrome Research Foundation (RSRF) has awarded $1.7 million to fund 15 cutting edge projects aimed at accelerating treatments and a cure for Rett Syndrome, a devastating neurological disorder diagnosed almost exclusively in girls.

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.

"Today's announcement brings the total research funding committed in 2004 by RSRF to a record $2 million. This impressive 42% increase over last year's funding levels confirms our passionate commitment to Rett research and our belief that treatments and a cure are within our reach, î said Craig Robertson, Executive Director of the RSRF.

Among the awards is an exceptional project aimed at identifying targets of the ñRett geneî, MECP2. The trustees of RSRF awarded a Grant of Excellence to Accelerate Rett Research (G.E.A.R.) totaling $522,504 to Huda Zoghbi of Baylor College of Medicine and Nathaniel Heintz of Rockefeller University. The collaboration between these eminent labs was conceived at a small meeting convened late last year where RSRF posed the question of how we might be a catalyst to propel research forward. This concerted effort between two top laboratories has the possibility of making a great impact not just for RTT but for the field of neurobiology at large.

The 2004 Research Grants include an interesting project from Fyodor Urnov of the biotech firm Sangamo BioSciences and Egor Prokhorchouk of the Institute of Gene Biology in Moscow. They will attempt to treat RTT-like symptoms in mice through gene correction by utilizing the cell's own machinery to repair the mutation. Another clinically oriented project is Genevieve Laforet's of the University of Massachusetts. Her study will test whether the use of an anti-asthma drug, theophylline, can partially bypass the MeCP2 malfunction and potentially reduce the severity of RTT-like symptoms in mice.

Founded in late 1999, RSRF is the world's leading private funder of biomedical research for Rett Syndrome. In fact, RSRF's financial commitment to research in 2004 including research grants, post-doctoral fellowships, G.E.A.R. awards and sponsorships of scientific meetings is close to half of the total National Institutes of Health (NIH) RTT budget for the year.

ñThe majority of this year's recipients are new to the area of RTT. This speaks forcefully regarding the momentum that the RTT field enjoys and the aggressive outreach to the scientific community on the part of RSRF," said Monica Coenraads, co-founder and Director of Research for RSRF.

"The standard of grants submitted to RSRF has gone up relentlessly each year and once more reached new heights in the 2004 round. Gratifyingly, Rett Syndrome continues to attract the attention of new top class scientists, especially neuroscientists who want to properly understand how the disorder affects the brain. The sheer quality of RSRF's research portfolio maximizes its chances of really making a difference,î stated Adrian Bird, Ph.D., the Chairman of RSRF's Scientific Advisory Board. Dr. Bird is the Director of the Wellcome Trust Centre for Cell Biology at the University of Edinburgh and a Governor of the Wellcome Trust.

For more information on RSRF's research program please visit our website at www.rsrf.org .

RSRF is pleased to award grants to the following researchers:

G.E.A.R.
Huda Zoghbi, M.D. and Nathaniel Heintz, Ph.D.
Baylor College of Medicine and Rockefeller University
"Novel Strategy for Identification of Neuron-Specific MeCP2 Targets"
$522,504

Research Grants
John Christodoulou, Ph.D.
Children's Hospital at Westmead, Sydney
"STK9, a second RTT gene: genetic and functional studies"
$50,000
Research Sponsor: Ford Motor Company

Charlotte Kilstrup-Nielsen, Ph.D.
University of Insubria (Italy)
"Characterization of novel proteins influencing MeCP2 activity and analysis of their possible involvement in Rett Syndrome."
$80,000
Research Sponsor: Robert C. & Adele R. Schiff Foundation

Genevieve Laforet, M.D., Ph.D.
University of Massachusetts
"HDAC Activation in RTT"
$100,000
Research Sponsor: The Massachusetts Rett Syndrome Association

Janine LaSalle, Ph.D.
University of California Davis
"The Role of MeCP2 in the Ontogeny of Cerebral Cortical Neurons"
$50,000 (extension of existing award)

Sanford Leuba, Ph.D. & Jordanka Zlatanova, Ph.D.
University of Pittsburgh & Polytechnic University
"Rett Syndrome: MeCP2 action in chromatin"
$100,000
Research Sponsor: Adam (Buddha) Lavey/Reading Rock. Inc.

Berge Minassian, M.D.
Hospital for Sick Children
"Generation and characterization of mice with isoform-specific Mecp2-deficiency"
$100,000

Sam Pfaff, Ph.D.
Salk Institute
"Analysis of Neuronal Development, Axon guidance and Connectivity in MeCP2 mutant mice"
$50,000

Fyodor Urnov, Ph.D. & Egor Prokhorchouk, Ph.D.
Sangamo BioSciences & Institute of Gene Biology, Moscow
"Use of designed zinc finger protein nucleases in gene correction therapy for Rett Syndrome"
$100,000
Research Sponsor: Israel Rett Syndrome Center

Post-Doctoral Fellowships
Skirmantas Kriaucionis
University of Edinburgh
Mentor: Adrian Bird
"Investigation of Mitochondrial Defects in a mouse model of RTT"
$100,000

Mizue Hisano, Ph.D.
Lawrence Berkeley National Lab
Mentor: Terumi Kohwi-Shigematsu
"Characterization of MeCP2-target genes in RTT"
$100,000

Satoko Matsumura, D.D.S., Ph.D.
New York University
Mentor: Angus Wilson
"Uncovering a role for MeCP2 as an activator of gene expression"
$97,808
Research Sponsor: Harvey and Heidi Bookman

Jean-Christophe Roux, Ph.D.
Mentor: Gerard Hilaire
CNRS France
"Alterations of Respiratory Rhythm and Bioamine Metabolism in MECP2 Deficient Mice"
$100,000

Matthew Tudor, Ph.D.
Whitehead Institute
Mentor: Rudolf Jaenisch
"Genetic and molecular characterisation of the 3 MBD family members, MBD1, MBD2 and MeCP2"
$100,000

Juan Young, Ph.D.
Baylor College of Medicine
Mentor: Huda Zoghbi
"Exploring the reversibility of the RTT phenotype: conditional restoration of MeCP2 in a mouse model of RTT"
$25,000 (extension of existing award)