Reference:
ORPHA258004
Abstract:
Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for autism-spectrum disorders and it is classified with autism into the DSM-IV manual. The causative genes (MeCP2 and CDKL5) possibly play a role in chromatin remodelling mechanisms which are of major importance for genome expression, regulation and dynamics. Hence, understanding the pathophysiology of RS could have an impact for several fields of human genetics and neuroscience. Rett syndrome is a severe phenotype for which there is currently no efficient treatment. However, recent key experiments demonstrated that re-expressing Mecp2 in the knock-out mouse displaying overt symptoms was able to reverse its phenotype. These reasons, combined to the strong commitments of parent associations to support research, have generated a huge interest for this rare disease. Although the biochemical function of the proteins involved in this disorder is known, the pathophysiological mechanisms are still mysterious, stressing the need for synergy and multidisciplinarity. Because Rett syndrome could be reversible, it is a priority to combine all possible approaches understand disease mechanisms. This could allow the rapid translation of basic research into efficient therapeutic interventions for RS patients. Several laboratories in Europe have contributed significantly to the research in this field. However, the groups working on RS are not organized to exchange and collaborate efficiently at the european level. Given the complex nature of the disease, we are convinced that a multidisciplinary and trans-national research network is needed. To successfully achieve our ambitious aims, it was necessary to gather a sufficient critical mass from different fields, to combine different expertises and to develop exchanges of ideas and material between the participating countries. This is the reason why we propose the creation of an ﾓEuropean Network on Rett Syndrome” associating 10 partners in 5 eligible countries, an initiative supported by 8 parent associations.
PROJECT DETAILS
beginning: 2008.
end: 2010.
Country of research: France, Italy, Germany, Spain,
Counry of funding source: EU
Funding organization: FP6-E-rare
Financing: EU-CORDIS – 0 €