Skip to main content
Ir a la página de inicio de la Comisión Europea (se abrirá en una nueva ventana)
español es
CORDIS - Resultados de investigaciones de la UE
CORDIS
Contenido archivado el 2024-05-07

Out of equilibrium dynamics of glassy systems

Objetivo



Research objectives and content

genetic testing, counselling and medical care. Indeed (1) mutation screening and counselling have been available in most EU countries for a number of years and in many laboratories; (2) the frequency of carriers is high ( 1/20-1/30); (3) facilitated contacts between the research community, the clinical geneticists and the medical practitioners have been set up e.g. through the past and ongoing CA on cystic fibrosis. The present proposal aims at: (1) developing high quality procedures for genetic testing and counselling. This will be achieved by testing and training in laboratory methods, providing quality supplies, and by developing sets of information documents and forms for the practitioner and the patient, (2) stimulating the registration of medical and genetic information in a robust internationally compatible database adapted to the needs of clinicians and researchers, (3) providing support for research on genetic factors which modulate the phenot of cystic fibrosis. More facilities will be responsible for the coordination, for the training of pilot centers and for the supplies and documents. The pilot laboratories in turn will train and support regional and local testing and counselling centers. 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. 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 centers 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. The CA on cystic fibrosis will undoubtedly generate information and documents which could provide a model on which genetic services for other inherited diseases could be based.

Ámbito científico (EuroSciVoc)

Programa(s)

Tema(s)

Convocatoria de propuestas

Datos no disponibles

Régimen de financiación

Datos no disponibles

Coordinador

ECOLE NORMALE SUPERIEURE DE LYON
Aportación de la UE
Sin datos
Dirección
Allée d'Italie 46 URA 1325 CNRS
69364 Lyon
Francia
Coste total
Sin datos