Press Releases

Monica Coenraads
Director of Research, RSRF
Monica Coenraads
203.243.5733 January 19, 2004
Rett Syndrome Research Foundation Announces Grants of Excellence for Accelerated Rett Research
$300,000 Awarded to Three Labs

The Rett Syndrome Research Foundation (RSRF) is pleased to announce the creation of a new fast-track funding mechanism. The board-initiated Grants of Excellence for Accelerated Rett Research (G.E.A.R.) have been awarded to three outstanding investigators who share RSRF's urgent mission of finding treatments and a cure for Rett Syndrome. The investigators are Adrian Bird, PhD of the University of Edinburgh; Rudolf Jaenisch, MD of the Whitehead Institute and Huda Zoghbi, MD of Baylor College of Medicine.

Rett Syndrome (RTT) is a devastating neurological disorder diagnosed almost exclusively in girls. Children with 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 extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.

"We are delighted to receive the G.E.A.R. award which will allow us to activate novel research projects on the function of MECP2, the gene that causes RTT when mutated, and enhance our capacity to generate the knowledge that can, in the longer term, underpin therapeutic approaches to RTT," stated Adrian Bird. The award will support several projects in the Bird lab using the Mecp2 knockout mice to ask basic questions about the behavior of the MeCP2 protein in living cells and the consequences of its loss in brain cells. In addition Dr. Bird will try to relieve the Rett-like symptoms by activating the Mecp2 gene in the mutant mice. This will be done by reversing a block on the Mecp2 gene once symptoms have appeared, or by artificially administering a synthetic Mecp2 gene.

Dr. Jaenisch's lab will use the G.E.A.R. funds to accelerate development of the engineered mice needed for the genetic manipulation of Mecp2. He will attempt to answer the crucial question of when the mutant neurons in the Mecp2 knock out mice become dysfunctional. Dr. Jaenisch will also investigate whether the restoration of normal Mecp2 expression in a mutant mouse will affect the incidence or progression of the disorder. "The G.E.A.R. award comes at a time of a tight NIH budget and will allow us to concentrate on aspects of our project that would otherwise be delayed due to funding shortfalls," shares Dr. Jaenisch.

Behavioral and molecular studies of a mouse model of Rett syndrome (Mecp2 308 allele) created in Dr. Zoghbiís lab are beginning to reveal features and pathways that may be pharmacologically treated or modulated. Dr. Zoghbiís G.E.A.R. award will support pre-clinical trials in the Mecp2 308/Y  mice aimed at ameliorating the symptoms of anxiety and tremors. "We are very grateful for the G.E.A.R. award because it will allow us to pursue new lines of investigations that are timely and clinically relevant. The cost of such studies would have been prohibitive but funds from RSRF will make this pre-clinical research initiative possible," stated Dr. Zoghbi.

Further information on the G.E.A.R. projects is available on the RSRF website here.

"The addition of the GEAR awards further diversifies the portfolio of research projects financed by RSRF. We are confident that this infusion of resources will help accelerate the translation of basic research discoveries to clinical applications that will directly benefit individuals struggling with RTT," said Monica Coenraads, Director of Research for RSRF.

Founded in late 1999, RSRF is the world's leading private funder of RTT research. To date, RSRF has committed $4.8 million to fund 51 research projects and scientific meetings.