Community Research and Development Information Service - CORDIS

Microdeletion/duplication research network

RESULT DESCRIPTION:
A Microdeletion Research Network consisting of 7 European scientific groups, derived from Antwerp, Nijmegen, Oxford, Pavia, Stockholm, Troina and Zurich, all working on chromosomal microdeletions has been established.

DISSEMINATION:
This European Network will work, in close collaboration, on the identification of new microdeletion/duplication syndromes and the gene(s) involved in those syndromes. The new findings of the Network will be made available to the (cyto)genetic professionals through the ECARUCA website and its Register, and through publications in the medical and scientific literature.

INNOVATIVE FEATURES:
All scientific groups work with the novel techniques such as microarray based comparative genomic hybridisation (array CGH) and Multiplex Ligation-dependent Probe Amplification (MLPA)in order to identify, sofar unknown, chromosomal microdeletions and -duplications. Sharing these novel data and information within the European Network will facilitate insight in the frequency, clinical significance and mechanism of those novel chromosomal microaberrations.

RESULTS:
The Network has come together twice. At these meetings the Methods for a collaborative study on the frequency of specific novel microdeletions and -duplications have been set up. Subsequently, each group has started a part of the project in its own Centre. In 2006 the various data will be combined and, as a whole, interpreted.

EXPECTED BENEFITS:
The results generated by the Microdeletion Network will lead to a better understanding of the clinical relevance of submicroscopic alterations in mental retardation and congenital abnormalities. The findings of this Network will be made available to the ECARUCA members when applicable so that this information can subsequently be used for improving patient care.

Related information

Reported by

NATIONAL GENETICS REFERENCE LABORATORY(WESSEX)
Dept. Human Genetics 849, P.O. Box 9101
6500 HB Salisbury
United Kingdom
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