Cystic Fibrosis: A Model Disease to Set Up Procedures for Cost Effective Genetic Testing and Counseling in the EU

Información del proyecto

Identificador del acuerdo de subvención: IC20960058

Proyecto cerrado

Fecha de inicio 1 Diciembre 1996

Fecha de finalización 31 Enero 2000

Financiado con arreglo a

• Specific research, technological development and demonstration programme in the field of cooperation with third countries and international organizations, 1994-1998

Coste total

Sin datos

Aportación de la UE

Sin datos

Coordinado por

KATHOLIEKE UNIVERSITEIT LEUVEN
Belgium

Objetivo

Cystic Fibrosis (CF) provides a unique model to study various aspects of 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)

• ciencias naturales › informática y ciencias de la información › software
• ciencias naturales › informática y ciencias de la información › base de datos
• ciencias médicas y de la salud › biotecnología médica › ingeniería genética › terapia génica
• ciencias naturales › ciencias biológicas › genética › mutación

Programa(s)

• FP4-INCO - Specific research, technological development and demonstration programme in the field of cooperation with third countries and international organizations, 1994-1998

Tema(s)

• 0102 - Cooperation with the countries of central and eastern Europe and with the new independent states of the former Soviet Union

Convocatoria de propuestas

Datos no disponibles

Régimen de financiación

CSC - Cost-sharing contracts

Coordinador

KATHOLIEKE UNIVERSITEIT LEUVEN

• Aportación de la UE: Sin datos
• Dirección: 49,Herestraat 49 ; 3000 LOUVAIN / LEUVEN ; Bélgica
• Coste total: Sin datos