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Zawartość zarchiwizowana w dniu 2024-05-07

Cystic Fibrosis: a model disease to set up procedures for cost effective genetic testing and counselling in the EU


- To develop high quality procedures for genetic testing and counselling. This will be achieved by testing and training in laboratory methods providing quality supplies, and by developig sets of information documents and forms for the practioner and the patient.
- To stimulate the registration of medical and genetic information in a robust internationally compatible database adapted to the needs of clinicians and researchers.
- To provide support for research on genetic factors which modulate the phenotype of cystic fibrosis.

Core facilities will be responsible for the coordination, for the training of pilot centres and for the supplies and documents. The pilot laboratories in turn will train and support regional and local testing and counselling centres. The same network will be used for the testing and implementation of the clinical database and for the research on genetic factors which modulate CF symptoms and for providing sets of probes necessary for second phase neonatal screening. During the course of this CA, the steering committee will receive counsel from experts in legal and health economic matters regarding this CA and will stay in close contact with the gene therapy centres who in turn should benefit from the information obtained by this CA. At the end of this concerted action, a series of guidelines for the accreditations of CF testing laboratories and for the harmonisation of genetic services for CF and their cost in Europe, should be available. Moreover, implementation of the software programs would make a unique CF database available in Europe to clinicians or researchers allowing them to generate readily genotype-phenotype correlations on large numbers of patients. This CA will generate information and documents which could provide a model on which genetic services for other inherited diseases could be based.

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49,Herestraat 49

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