EUROGLYCAN: A systematic approach towards the understanding, diagnosis and treatment of CDGS, a novel group of inborn metabolic disorders caused by defects of glycosylation

• Unité de recherche: PCRD EU
• Numéro de projet: 00.0068-1
• Titre du projet anglais: EUROGLYCAN: A systematic approach towards the understanding, diagnosis and treatment of CDGS, a novel group of inborn metabolic disorders caused by defects of glycosylation

Mots-clé (Anglais)

Inborn errors of metabolism; congenital disorders; glycosylation; enzyme deficiency;
Life Sciences; Medicine; Health; Scientific Research

Autre Numéro de projet (Anglais)

EU project number: QLG1-2000-00047

Programme de recherche (Anglais)

EU-programme: 5. Frame Research Programme - 1.1.8 Generic R&D activities

Description succincte (Allemand)

Siehe Abstract

Partenaires et organisations internationales (Allemand)

Coordinator: University of Leuven (B)

Résumé des résultats (Abstract) (Allemand)

EUROGLYCAN will focus on a novel group of rare metabolic diseases caused by defects in protein glycosylation. The defects result in mental retardation, severe disease and physical handicap.

Our major aims are to:
1) develop effective tools and promote early diagnosis;
2) collate patient information, useful for the identification and classification of novel types;
3) raise awareness, because the disorders are largely unrecognised;
4) establish a patient group large enough for systematic investigations and clinical trials.

To fulfil these aims:
1) a database will be created, maintained by the reference centre and accessible through Internet;
2) the material will be reviewed and a depository of cell lines will be generated;
3) diagnostic services will be made widely available;
4) interesting cases will be selected for research;
5) (mouse)models will be developed;
6)collaborations will be sought with companies for the development of therapies.

Références bases de données (Anglais)

Swiss Database: Euro-DB of the
State Secretariat for Education and Research
Hallwylstrasse 4
CH-3003 Berne, Switzerland
Tel. [phone]
Swiss Project-Number: 00.0068-1