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Settings standards for research into Rett syndrome
Date:10/31/2012

There is an urgent need for new drugs to treat Rett syndrome, a rare and severe neurological disease mainly affecting girls. A bottleneck in drug development for this syndrome is a lack of clarity at the level of preclinical research. Key researchers in this field now tackle this issue, proposing standards and guidelines for Rett syndrome research, in an Open Access review article published on Oct. 31, 2012 in Disease Models & Mechanisms (DMM) at http://dmm.biologists.org/. This "state of the science" assessment serves as a comprehensive resource of all findings and citations related to Rett syndrome.

Rett syndrome is a rare neurological disease that affects girls almost exclusively. Affected children appear to grow and develop normally for the first 6-12 months of life, but then begin to show symptoms including slow development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, affected children show a regression of many skills, with loss of purposeful hand use, speech and basic motor function. Severe cases can experience problems with heart, respiratory and gastrointestinal function. Rett syndrome is extremely difficult on affected girls and their families. Although the disease-causing gene (called MECP2) has been identified, there is no cure, and only limited symptomatic treatments are available. A key to developing new treatments for this devastating disorder is to improve systems and standards at the preclinical research level.

The new review article reports on outcomes from a workshop held in September of 2011 focused on the state of the art in animal studies of Rett syndrome. The workshop was convened by important funders of Rett syndrome research, including the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the Internationa
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Contact: Sarah E. Allan, PhD
sarah.allan@biologists.com
International Rett Syndrome Foundation
Source:Eurekalert

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