Rett Syndrome Research Foundation commits funding to support Matthew Tudor

August 25, 2004

Tags: Jaenisch LabAwards + Announcements

CAMBRIDGE, Mass. — Matthew Tudor, postdoc in the lab of Whitehead Founding Member Rudolf Jaenisch, is among 15 awardees of research and education support from The Rett Syndrome Research Foundation (RSRF) for 2004. The funding is aimed at accelerating treatments and identifying 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.

Tudor’s post-doctoral fellowship award will support his research into gene expression control by members of a group of DNA-binding proteins called the MBD family. Mutations in one member of this family of genes are related to Rett Syndrome, and researchers believe that a better understanding of the gene family will aid those looking for a treatment for this disorder.

“Today’s announcement brings the total research funding committed in 2004 by RSRF to a record $2 million. This impressive 42 percent 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,” said Craig Robertson, executive director of the RSRF.

Among the other awards is a large-scale project aimed at identifying targets of 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 2004 Research Grants also include a 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.

For more information on RSRF’s research program please visit The full listing of awardees follows.

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

Research Grants
John Christodoulou, Ph.D.
Children’s Hospital at Westmead, Sydney
STK9, a second RTT gene: genetic and functional studies
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
Research Sponsor: Robert C. & Adele R. Schiff Foundation

Genevieve Laforet, M.D., Ph.D.
University of Massachusetts
HDAC Activation in RTT
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
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

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

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
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

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

Satoko Matsumura, D.D.S., Ph.D.
New York University
Mentor: Angus Wilson
Uncovering a role for MeCP2 as an activator of gene expression
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

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

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)


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