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 International Rett Syndrome Foundation (IRSF) and the Rett Syndrome Research Trust (RSRT).
Workshop participants included key members of the Rett syndrome research community, including basic scientists, clinicians, and representatives from the National Institutes of Health (NIH), the Food and Drug Administration (FDA), the pharmaceutical industry and private foundations. Several workshop participants contributed to the article, and the corresponding authors are Dr. David Katz (Case Western Reserve University School of Medicine), Dr. Laura Mamounas (National Institute of Neurological Disorders and Stroke) and Dr. Huda Zoghbi (Baylor College of Medicine).
The main aim of the workshop was to identify crucial knowledge gaps in Rett syndrome research at the preclinical level, and to suggest scientific priorities and best practices for the use of animal models in preclinical evaluation of potential new therapeutics. As explained in the new review article, the combination of an urgent need for effective treatments for Rett syndrome, coupled with the availability of good mouse models, is a driving force for studies that can identify and test new drugs. The outcome of the workshop included a set of recommended guidelines for animal studies of Rett syndrome, to ensure that decisions to initiate costly clinical trials will be founded on reliable data that is produced using standardized study design and transparent reporting. Ultimately, the increased level of rigor in animal studies should shorten the time to effective treatments.
REFERENCE: Katz, D. M., Berger-Sweeney, J. E., Eubanks, J. H., Justice, M. J., Neul, J. L., Pozzo-Miller, L., Blue, M. E., Christian, D., Crawley, J. N., Giustetto, M. et al. (2012). Preclinical research in Rett syndrome: setting the foundation for translational success. Dis. Model. Mech. doi:10.1242/dmm.011007
THIS ARTICLE APPEARS IN DISEASE MODELS & MECHANISMS ON: October 31, 2012. EMBARGOED UNTIL: October 31, 2012, 05:15 HRS EDT (10:15 HRS GMT).
IF REPORTING ON THIS STORY, PLEASE MENTION DISEASE MODELS & MECHANISMS AS THE SOURCE AND CARRY A LINK TO: http://dmm.biologists.org/
This article is posted on this site to give advance access to authorised media who may wish to report on this story. Full attribution is required, and if reporting online, a link to dmm.biologists.com is also required. The story posted here refers to an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial Share Alike License (http://creativecommons.org/licenses/by-nc-sa/3.0), which permits unrestricted non-commercial use, distribution and reproduction in any medium provided that the original work is properly cited and all further distributions of the work or adaptation are subject to the same Creative Commons License terms.
About the International Rett Syndrome Foundation.
IRSF is the world's leading private funder of basic, translational and clinical Rett syndrome research, funding over $28M in high-quality, peer-reviewed research grants and programs to date. Annually, IRSF hosts the world's largest gathering of global Rett researchers and clinicians to establish research direction and priorities while exchanging ideas and the most recent information. IRSF is the most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and emotional family support, and stimulating research aimed at accelerating treatments and a cure for Rett syndrome and related disorders. IRSF has earned Charity Navigator's most prestigious 4 star rating. To learn more about IRSF and Rett syndrome, visit www.rettsyndrome.org or call IRSF at 1-800-818-RETT (7388).
Sarah E. Allan | EurekAlert!
Team discovers how bacteria exploit a chink in the body's armor
20.01.2017 | University of Illinois at Urbana-Champaign
Rabies viruses reveal wiring in transparent brains
19.01.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
20.01.2017 | Awards Funding
20.01.2017 | Materials Sciences
20.01.2017 | Life Sciences