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
Czech Republic
Towards a new era for the identification and characterisation of inborn errors of glycosylation

Project Coordinator

Center for Human Genetics University of Leuven


Emile Van Schaftingen de Duve Institute Brussels, Belgium
François Foulquier UMR8576 CNRS Villeneuve D'Ascq, France
Christian Thiel Center for Child and Adolescent Medicine Heidelberg, Germany
Uwe Kornak Berlin-Brandenburg Center for Regenerative Therapies Berlin, Germany
Dirk Lefeber Radboudumc Nijmegen, The Netherlands
Hana Hansíková The First Faculty of Medicine Prague, Czech Republic
Belén Pérez Centro de Diagnóstico de Enfermedades Moleculares, Fundación para la Investigación Biomédica del Hospital La Paz- IDIPAZ Madrid, Spain


"Glycosylation is a chemical modification of proteins in our cells. It affects their stability and function. Thousands of proteins are ‘glyco-proteins’. As a result, genetic defects in these pathways lead to mostly severe diseases, called ‘Congenital Disorders of Glycosylation’ (CDG). With over 70 different types, CDG becomes an impressive group of metabolic diseases.  

On the one hand, we have patients with clear glycosylation anomalies, whose genetic defect remains elusive. We plan to use genomic tools to identify new genes and new disease mechanisms. On the other hand, we believe that many other patients with symptoms that fit with CDG (like intellectual disabilities, multiple congenital anomalies, bleeding disorders etc.), may have a glycosylation disorder that presently escapes diagnosis because the diagnostic tools are insufficient. We will develop new biomarkers based on glycomics, glycopeptidomics and metabolomics. 

The ultimate goal is to treat or cure CDG patients. This proves difficult, as the cellular compartments where glycosylation occurs cannot easily be reached with therapeutic compounds. Hence, we will use cellular and mouse models to study the pathophysiology of different types of CDG. In addition, fundamental research into the biochemistry of the sugars may lead to the identification of completely novel types of disease.  

EUROGLYCAN-OMICS 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