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3 Ellisen LW, Bird J, West DC et al: TAN-1, the 7 Pear WS, Aster JC, Scott ML et al: Exclusive 11 Berry LW, Westlund B, Schedl T: Germ-line gene, is broken by chromosomal transloca- glp-1, a Caenorhabditis elegans member of activated Notch alleles. J. Exp. Med. 1996; the Notch family of receptors. Development 4 Maillard I, Adler SH, Pear WS: Notch and 8 Bellavia D, Campese AF, Alesse E et al: 5 Sanchez-Irizarry C, Carpenter AC, Weng AP 13 Hoemann CD, Beaulieu N, Girard L et al: proteolytic activation depend, respectively, on a novel domain and the LNR repeats.
Mol Cell Biol 2004; 24: 9265 – 9273.
signaling. Mol Cell Biol 2003; 23: 655 – 664.
10 Greenwald I, Seydoux G: Analysis of gain- of-function mutations of the lin-12 gene of 14 Zweidler-McKay PA, Pear WS: Notch and T ences B versus T lineage determination.
Caenorhabditis elegans. Nature 1990; 346: . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . after which the glycoprotein is trans- its transit through the Golgi, the glycanstructures are gradually modified into more complex, sometimes much spe-cialised structures. This modification process is organised like in an ‘assemblyline’, whereby the different glycosyl-transferases act in a very strict order, . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
European Journal of Human Genetics (2005) 13, 395–397.
The congenital disorders of gly- which the term ‘carousel testing’ was CDGaretypicallymultisystemdiseases, centres. The ultimate goal of the project scientists collaborate in order to identi- database and patient sample repository.
reticulum (ER). A ‘standard’ oligosac- ent expert laboratories – a process for clinical field is expanding, in that thedefects of glycosylation now also in-clude tissue-specific disorders, such asdefects of cell signalling leading toaberrant cell growth, defects of leuko-cyte trafficking and congenital muscu-lar abnormalities of the brain.4 These dis-orders result from very specific glycandefects, which are not readily detectedin the blood, and for which otherscreening tools will have to be devel-oped.
centralised database and repository forpatient data and samples. The samplesare circulated among the different re-search laboratories, until they reach afinal diagnosis. The network has alsocreated national referral centres indifferent European countries, includingthe new member states. The idea is thatthe local clinicians – paediatricians,clinical geneticists, neurologists, etc. – Geographical presentation of the network. All participants, except the two in Israel, are situated on this map. Professor Gert Matthijs, based at the Centre for Human Genetics of the University of Leuven (B), coordinates EUROGLYCANET in close collaboration with Professor Jaak Jaeken, who is at the Centre for Metabolic Diseases at the University Hospital in Leuven (B), and who described the first casesof CDG back in 1980. Other core participants in this and in the previous network Briones and Dr M Antonia Vilaseca (Institut Bioquı´mica Clı´nica, and Hospital Sant research network for further work-up.
Joan de Deu, Barcelona, E), Professor Kurt von Figura (University of Go Professor Thierry Hennet (University of Zu (Hopital Bichat, Paris, F), Professor Emile Van Schaftingen (Christian de Duve Institute of Cellular Pathology, Brussels, B), Professor Ron Wevers (University ofNijmegen, NL), and Professor Bryan Winchester (Institute of Child Health, London, can be offered at no cost for the patients UK). In total, 27 partners from 16 countries are involved in EUROGLYCANET. The full list of participants is available on www.euroglycanet.org.
these services at no cost allows thenetwork easy access to patients andrecruitment of interesting cases. Overthe years, a rich collection of ‘unsolved cases’ had been gathered. They are both ical or basic research laboratories. Thus, sionals, offering training to expert clin- icians and researchers in the field, with geneticists are all represented. However, Golgi is less well conserved. In this case, structures is necessary for the identifi- referral centres, via www.euroglycanet.
lenge for the (larger) clinical and basic nological Development (RTD) project.
therapies for these complex diseases.
Professor G Matthijs is at the Center for Herestraat 49, Leuven B-3000, Belgium.
Europe. As a result of this collaboration, tified to bypass the deficient enzymes or 1 Lowe JB, Marth JD: A genetic approach to that for rare diseases, the close interac- Schaftingen E: Defects of N-glycan synth-esis; In: Scriver CR, Beaudet AL, Sly WS, the centrally monitored ‘carousel’ test- Valle D (eds): The metabolic and molecular more fundamental research activities.
ing, are the key to success. This network McGraw-Hill, 2001, pp 1601 – 1622.
3 Aebi M, Hennet T: Congenital disorders of glycosylation: genetic model systems lead it’s all in it!. J Inherit Metab Dis 2003; 26: . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . testing and possible preventive mea- testing all relatives at risk? In the lattercase, the program would be at odds . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
participation in the screening. Sec-ondly, critics tend to ignore that European Journal of Human Genetics (2005) 13, 397 – 398.
of the information. An ethical viewthat focuses exclusively on relatives’ Cascadescreening,thatis,sys- objections is questionable. Firstly, rightnottoknowdoesnotdojustice to the (possible) relatives’ health and/ possible interests of clients’ relatives – particular their right ‘not to know’ that

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