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

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 nearly 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.

Acronym EURO-CDG
Network E-Rare-2
Call 3rd Joint Call for Research Projects on Rare Diseases

Project partner

Number Name Role Country
1 University of Leuven Coordinator Belgium
2 de Duve Institute, Université catholique de Louvain Partner Belgium
3 Hôpital Bichat-Claude Bernard Partner France
4 University Children´s Hospital Heidelberg Partner Germany
5 Université de Lille 1 Partner France
6 Charité Universitätsmedizin Partner Germany