Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Settings standards for research into Rett syndrome

31.10.2012
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 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!
Further information:
http://www.rettsyndrome.org

More articles from Health and Medicine:

nachricht Unique brain 'fingerprint' can predict drug effectiveness
11.07.2018 | McGill University

nachricht Direct conversion of non-neuronal cells into nerve cells
03.07.2018 | Universitätsmedizin der Johannes Gutenberg-Universität Mainz

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: First evidence on the source of extragalactic particles

For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.

To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...

Im Focus: Magnetic vortices: Two independent magnetic skyrmion phases discovered in a single material

For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.

Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...

Im Focus: Breaking the bond: To take part or not?

Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.

A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...

Im Focus: New 2D Spectroscopy Methods

Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.

"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....

Im Focus: Chemical reactions in the light of ultrashort X-ray pulses from free-electron lasers

Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.

Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Conference on Laser Polishing – LaP: Fine Tuning for Surfaces

12.07.2018 | Event News

11th European Wood-based Panel Symposium 2018: Meeting point for the wood-based materials industry

03.07.2018 | Event News

 
Latest News

Subaru Telescope helps pinpoint origin of ultra-high energy neutrino

16.07.2018 | Physics and Astronomy

Barium ruthenate: A high-yield, easy-to-handle perovskite catalyst for the oxidation of sulfides

16.07.2018 | Life Sciences

New research calculates capacity of North American forests to sequester carbon

16.07.2018 | Earth Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>