Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

France
Germany
Israel
Italy
Spain
EuroRETT
European Network on Rett Syndrome

Project Coordinator

INSERM U491 Faculté de Médecin de la Timone
Marseille
France

Partners

Eva Gak Sheba Medical Center Genetics Institute Tel Hashomer , Israel
Giovanni Laviola Instituto Superiore di Sanita Rome, Italy
Giovanni Levi UMR166 CNRS/MNHN RDDM Paris, France
M. Cristina Cardoso Max Delbrück Center Molecular Medicine Berlin, Germany
Manel Esteller Spanish National Cancer Centre (CNIO) Molecular Pathology Programme, Cancer Epigenetics Laboratory Madrid, Spain
Peter Huppke Georg August University Pediatrics and Pediartic Neurology Göttingen, Germany
Silvia Russo Instituto Auxologico Italiano Laboratorio di Biologia Molecolare Milano, Italy
Thierry Bienvenu Institut Cochin INSERM U567 Paris, France
Vania Broccoli San Raffaele Scientific Istitute DIBIT Milano, Italy

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 “European Network on Rett Syndrome" associating 10 partners in 5 eligible countries, an initiative supported by 8 parent associations.
 

E-Rare 2012 - Created by Toussaint Biger