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.
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Project Coordinator
Partners
Christel Vaché | Laboratoire de Génétique Moléculaire CHU (University Hospital) INSERM U827 Montpellier | Montpellier, France |
Eduardo José Gil Duarte Silva | Center for Hereditary Diseases and Visual Neurosciences Laboratory IBLI- Faculty of Medicine University of Coimbra Coimbra | Coimbra, Portugal |
Erwin van Wijk | Radboud University Nijmegen Medicine Center Nijmegen | Nijmegen, The Netherlands |
Ieva Sliesoraityte | Institut de la Vision Paris | Paris, France |
Sérgio Leal | AIBILI (Coordinating Centre of the European Vision Institute Clinical Research Network) Coimbra | Coimbra, Portugal |
Usher syndrome (USH) is a rare genetic disease and the most common form of inherited deaf-blindness in man. USH is a clinically and genetically complex disorder, making diagnosis and treatment challenging. In the present “EUR-USH” network, young investigators with different backgrounds in medicine, genetics, cellular and molecular biology aim to synergize their expertise and bring new insights towards the understanding of USH. The combination of state-of–the-art clinical examinations and molecular analyses (e.g. NGS) will improve diagnosis. In addition, basic research (proteomics, imaging) will enlighten the mechanisms of the molecular pathogenesis. Moreover, gene-based therapies will be evaluated namely gene augmentation and translational read-through, to treat the progressive retinal degeneration with the ultimate goal to improve the life quality of USH patients.
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For more information ABOUT E-Rare please contact:
E-Rare Coordinator
Daria JULKOWSKA
Tel.: +33(0) 1 78 09 80 78
+33(0) 6 20 14 13 81
daria.julkowska@agencerecherche.fr
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France