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.

The Netherlands
A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders.

Project Coordinator

University of Leuven
Belgium, Flanders


Dirk Lefeber Radboud university medical center Nijmegen, The Netherlands
Belen Perez Centro de Biología Molecular Departamento de Biología Molecular, Universidad Autónoma de Madrid Madrid, Spain
Uwe Kornak Charité Universitäts-medizin Berlin, Germany
François Foulquier French National Research Center (CNRS) Villeneuve d'Ascq, France
Christian Thiel Heidelberg University Children´s Hospital Heidelberg, Germany
Nathalie Seta Hôpital Bichat-Claude Bernard, APHP Paris, France
EMILE van SCHAFTINGEN de Duve Institute Brussels, Belgium, French-speaking community

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.

E-Rare 2012 - Created by Toussaint Biger