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  • Final Report Summary - EUROGLYCANET (Congenital disorders of glycosylation: a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders)
FP6

EUROGLYCANET Informe resumido

Project ID: 512131
Financiado con arreglo a: FP6-LIFESCIHEALTH
País: Belgium

Final Report Summary - EUROGLYCANET (Congenital disorders of glycosylation: a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders)

The ultimate aim of the GLYCANET project was to promote the early diagnosis of Congenital disorders of glycosylation (CDG) by offering the diagnostic tools for screening and expert analysis and by raising awareness. It also aimed to integrate research activities in the field and work towards the development of CDG therapies and related disorders. The network installed a 'carousel system' to organise and follow a sample flow through the different laboratories. This included the establishment of the database accessible through the Internet and the provision of tools for early and expert diagnosis. To raise awareness about this group of rare diseases EUROGLYCANET provided information to the public and to physicians and other professionals by offering courses to expert clinicians and researchers. The network organised four successful annual meetings for clinical and basic scientists.

EUROGLYCANET installed referral centres in many different European countries. These were important for the recruitment of samples and the assistance to local physicians and families facing these diseases. The different laboratories involved in the diagnostic carousel were able to introduce novel methods, such as the Isoelectric focusing (IEF) of apolipoprotein (ApoCIII) for the identification of O-glycan defects and new technologies such as Surface-enhanced laser desorption / ionisation - time of flight - mass spectrometer (SELDI-TOF-MS) and Matrix-assisted laser desorption / ionisation - mass spectrometer (MALDI-MS) for the structural analysis of N-glycans, as well as mutation analysis for a plethora of novel genes. In general, more than 20 000 patients with unexplained diseases were screened for a glycosylation defect. Several new types of CDG were also discovered. From this viewpoint, it is certain that the activities of the network contributed both to the detection and diagnosis of CDG patients and to the raise of awareness and knowledge of these diseases amongst the medical community. However, due to the complex nature of the glycosylation pathways, pinpointing the genetic defect in all patients was not trivial. For the same reason, progress towards the development of therapies was slow.

More than 200 unsolved cases were transferred to the research laboratories for further investigation. They represented a rich source for the identification of novel defects and for the elucidation of basic mechanisms of glycosylation. The network was committed to solving these cases as soon as possible for the sake of the patients and their families.

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Contacto

Gert MATTHJS, (Head of Lab Molecular Diagn.)
Tel.: +32-163-460-70
Fax: +32-163-460-60
Correo electrónico
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