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.

A European research network for a systematic approach to CDG and related diseases

Project Coordinator

Center for Human Genetics University of Leuven


Christian Körner Center for Child and Adolescent Medicine Center for Metabolic Diseases University Children's Hospital Heidelberg Heidelberg, Germany
Emile Van Schaftingen Laboratory of Physiological Chemistry de Duve Institute Université Catholique de Louvain Brussels, Belgium
François Foulquier CNRS, Structural and Functional Glycobiology Unit Université de Lille Villeneuve d'Ascq Lille, France
Nathalie Seta Biochemistry Department Hopital Bichat-Claude Bernard Paris, France
Uwe Kornak Cherité Universitaetsmedizin Berlin Institute of Medical Genetics Berlin, Germany

Congenital Disorders of Glycosylation (CDG) are a growing group of rare inborn errors of metabolism. Patients present with an extremely variable and complex phenotype, and more than 40 causes of CDG have been defined genetically. Recent discoveries suggest that any defect that disturbs the function and organization of the intracellular compartments may lead to an abnormal glycosylation and thus cause CDG.

The work covers 3 different aspects:

1. Increasing the speed of diagnosis and disease identification will allow us to feed novel data into the biochemical, glycobiology and cell biological studies. This will be done by a systematic analysis of candidate genes, and by novel genetic approaches like exome sequencing.

2. The results will naturally be translated into the development of cellular and animal models that are essential to study the pathogenesis and an important step towards the development of therapies. A thorough analysis of the large group of PMM2-CDG (CDG-Ia) patients for modifier genes should help to explain phenotypical variability and allow to pinpoint pathways that may be targets for supportive therapy.

3. Therapy and cure are difficult to tackle in the case of CDG. For instance, the defects are situated in intracellular compartments that cannot (yet) be targeted by recombinant enzyme treatment. Also, the disease is largely non-progressive. Still, there is room for supportive therapies that would improve the patients’ life.

The 6 groups in this project are committed to work together to further increase the pace of research into CDG.


E-Rare 2012 - Created by Toussaint Biger