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
EMILE van SCHAFTINGEN | de Duve Institute | Brussels, Belgium, French-speaking community |
Nathalie Seta | Hôpital Bichat-Claude Bernard, APHP | Paris, France |
Christian Thiel | Heidelberg University Children´s Hospital | Heidelberg, Germany |
François Foulquier | French National Research Center (CNRS) | Villeneuve d'Ascq, France |
Uwe Kornak | Charité Universitäts-medizin | Berlin, Germany |
Belen Perez | Centro de Biología Molecular Departamento de Biología Molecular, Universidad Autónoma de Madrid | Madrid, Spain |
Dirk Lefeber | Radboud university medical center | Nijmegen, The Netherlands |
Congenital Disorders of Glycosylation (CDG) are rare inborn errors of glycosylation. With more than 70 different types and a number of cases constantly growing, CDG becomes an impressive group of metabolic diseases. Fifteen years ago, we created a European network on CDG. It has been maintained over these years and contributed significantly to the knowledge on CDG. Still, because of complex nature of the glycosylation defects, the number of patients that receive effective treatment is small. Interestingly, several potential ways of treating CDG have emerged recently. We plan to develop 3 interconnected lines of research to investigate these possibilities. They include the improvement of monosaccharide treatment, the evaluation of molecular chaperones and antisense mediated exon skipping, and investigations into the potential use of chloroquine and other pharmacological agents that would restore abnormal glycosylation. We will also investigate supportive treatment to improve the life of the patients for whom therapies are not easily conceivable, and thus alleviate the burden for the parents and families. In parallel, we will continue to focus on the rapid diagnosis and elucidation of novel types of CDG, maintain the database and promote research into the pathophysiology of the disease. EURO-CDG-2 will build on the achievements of EURO-CDG and EUROGLYCANET. It brings together a multidisciplinary group of clinical and basic researchers who have proven to be able to collaborate. We want to achieve the ambitious goals set here, for the sake of the patients and their families.
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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