Objetivo Immotile cilia syndrome (ICS), also known as Primary Ciliary Dyskinesia, is a genetic disorder which is generally inherited in an autosomal recessive fashion. The incidence appears to be about 1/30,000. ICS affects ciliary movement, ranging from dysmotility or even complete immotility of spermatozoa as well as cilia in ciliated epithelia. This primary defect in ciliary function leads to recurrent pulmonary and upper respiratory tract infections, resulting often in bronchiectasis. Hearing problems, situs inversus and male infertility are associated symptoms. Most clinical manifestations begin in early childhood. Diagnostic tests, based on clinical symptoms, mucociliary clearance and ultrastructure, do not always give clear and satisfactory results. Treatment, which is currently purely symptomatic, involves dealing with complications in the upper and lower respiratory tracts. None of the gene(s) involved has been identified, although genetic heterogeneity is suspected on the basis of the complex architecture of cilia. Given the rarity of familial cases of ICS, a multinational collaboration is clearly necessary, since only this will allow the identification of a sufficiently large group of patients to overcome the problems associated with the genetic heterogeneity likely to be present. Furthermore, only the envisaged type of project will bring clinicians and scientists with complementary fields of expertise together. The partners of this project are convinced that improvement of diagnosis and eventually treatment of the disorder are crucially dependent on progress in identifying the genetic defects responsible. Finally, the proposed research is not only likely to be of value to patients and their families, but will also shed light on the large number of ciliary gene products and their involvement in determining spatial relationships among cells and organs in early human embryological development. Programa(s) FP4-BIOMED 2 - Specific research, technological development and demonstration programme in the field of biomedicine and health, 1994-1998 Tema(s) 5.3 - Role of gene and gene products in disease aetiology and pathogenesis Convocatoria de propuestas Data not available Régimen de financiación CSC - Cost-sharing contracts Coordinador Humboldt-Universität zu Berlin Aportación de la UE Sin datos Dirección 130,Spandauer Damm 14050 Berlin Alemania Ver en el mapa Coste total Sin datos Participantes (8) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE Francia Aportación de la UE Sin datos Dirección Route de Mende 1919 34293 MONTPELLIER Ver en el mapa Coste total Sin datos Hospital General Universitario de Valencia España Aportación de la UE Sin datos Dirección S/N,Tres Creus 46014 Valencia Ver en el mapa Coste total Sin datos KATHOLIEKE UNIVERSITEIT LEUVEN Bélgica Aportación de la UE Sin datos Dirección 49,Herestraat 49 3000 LOUVAIN / LEUVEN Ver en el mapa Coste total Sin datos Policlinico San Matteo IRCCS Italia Aportación de la UE Sin datos Dirección 27100 Pavia Ver en el mapa Coste total Sin datos University College London Reino Unido Aportación de la UE Sin datos Dirección Rayne Institute 5 University Street WC1E 6JJ London Ver en el mapa Coste total Sin datos University of Cambridge Reino Unido Aportación de la UE Sin datos Dirección Tennis Court Road CB2 1QP Cambridge Ver en el mapa Coste total Sin datos Universität Zürich Aportación de la UE Sin datos Dirección Ver en el mapa Coste total Sin datos Université de Genève Suiza Aportación de la UE Sin datos Dirección 1,Rue Michel-Servet 1211 Genève 4 Ver en el mapa Coste total Sin datos