During recent years there has been an enormous improvement in diagnostic techniques, enabling cytogeneticists to find more and smaller chromosomal aberrations. However, accurate clinical knowledge about rare chromosome disorders is frequently lacking, mainly due to a significant decrease in published cases.

The resulting gap in clinical knowledge is in sharp contrast with the increasing demand from parents and physicians for reliable information on the disorder of their child or patient.

The facts above illustrate the need to collect (non-) published cases with a rare chromosomal aberration, including detailed clinical aspects.

The European Cytogeneticists Association initiated this project, and a Permanent Working Group under the supervision of professor A. Schinzel from Zurich established the feasibility of a database. The ECARUCA project is funded by the European Union.

ECARUCA aims to be a database that is easily accessible for all participants and encourages information exchange as well as exchange of technical knowledge.

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