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Congenital disorders of glycosylation: a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders
Project status:
From: 2005-02-01
To: 2009-01-31
(Completed)
Contract number:
Action line:
Type (Programme):
FP6
Instrument:
NoE
Project cost:
-
Project funding:
-
Project coordinator
Organisation Name:
KATHOLIEKE UNIVERSITEIT LEUVEN
Organisation adress:
Organisation country:
Nizozemska
Contact person name:
Contact person email:
Croatian partner
Organisation name:
Medicinski fakultet
Organisation address:
Contact person name:
Barić, Ivo
Contact person tel:
Contact person fax:
Contact person e-mail:
Partners
Organisation name
Country
Short description of project
The Congenital Disorders of Glycosylation (CDG) are an emerging group of inborn errors of metabolism. Most of these genetic defects result in severe disease, mental retardation and physical handicap. EUROGLYCANET will promote (early) diagnosis by offerin g the diagnostic tools for screening as well as for expert analysis and by raising awareness. It will integrate research activities in the field, and work towards the development of therapies for CDG and related disorders. To fulfil these aims, EUROGLYCA NET will 1) develop and share effective tools for (early) and expert diagnosis and 2) manage a sample flow through the different laboratories involved in this activity; 3) maintain a database, accessible through Internet and a public website. EUROGLYCANE T will also raise awareness by 4) providing information to the public and to physicians and other professionals, and by 5) offering training to expert clinicians and researchers in the field. To foster research it will select interesting cases for researc h and 6) establish an international research forum, including biennial internationalcongresses, where clinical and basic scientists will meet. The coordinated diagnostic and research activities include a.o. applications of DNA-arrays, 2-D gels, mass spe ctrometry and capillary electrophoresis for the study of glycoproteins and glycolipids synthesis and defects, and the development and use of yeast and mouse models for the study of the pathogenesis and the evaluation of therapies. 7) The network will pro mote collaborations with companies for the development of therapeutics. The integration of clinical and basic research groups within the network is a strong advantage in this respect. EUROGLYCANET will 8) increase quality and standardization by offering QA schemes and 9) spread and promote access to diagnostic services by installing additional referral centers in different European countries, including the newly associated states (NAS).
Short description of the task performed by Croatian partner
Ovo web sjedište koristi tehnologiju "kolačića" (eng. cookie) da bi se korisnicima prikazao dinamičan i personaliziran sadržaj, te su oni nužni za ispravan rad. Ako nastavite pregledavati ove stranice, kolačići će biti korišteni u suradnji s vašim preglednikom Weba.
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