Objective To understand the pathogenesis of various hereditary hearing defects, the complementary areas of expertise of the groups (histopathology, developmental biology, cell biology and genetics) have directed the formation of the consortium. 1) 1) Mapping and cloning sensorineural, mostly non syndromic recessive, deafness genes in humans. Large geographically isolated families, essentially from highly consanguinous populations (from about 10 different countries, with a variety of ethnic groups, dispersed throughout the world) will be studied. Genes responsible will firstly be tentatively isolated by a positional cloning strategy based on the cloning of the homologue mouse deafness genes, thereafter, using a candidate gene approach.2) 2) Evaluation of the performance of molecular diagnosis concerning the most severe sensory defects, will be carried out with 3 different genes including the gene responsible for Usher type 1B.3) 3) Determination of the functions of the proteins encoded by some deafness genes will be undertaken, based on diverse approaches (genetics, DNA recombinant technology, biochemistry, cellular and developmental studies).4) 4) Definition of the interactive proteins and development of murine models for the above studied diseases will contribute to the understanding of the pathogenesis and the search for specific therapies. Fields of science natural sciencesbiological sciencesgeneticsDNAnatural sciencesbiological sciencesbiochemistrybiomoleculesproteinsnatural sciencesbiological sciencescell biologynatural sciencesbiological sciencesdevelopmental biology Programme(s) FP4-BIOMED 2 - Specific research, technological development and demonstration programme in the field of biomedicine and health, 1994-1998 Topic(s) 5.3 - Role of gene and gene products in disease aetiology and pathogenesis Call for proposal Data not available Funding Scheme CSC - Cost-sharing contracts Coordinator Institut Pasteur Address 25,rue du dr. roux 75724 Paris France See on map EU contribution € 0,00 Participants (5) Sort alphabetically Sort by EU Contribution Expand all Collapse all Instituto Nacional de la Salud Spain EU contribution € 0,00 Address Km 9.,hospital ramon y cajal 28034 Madrid See on map Medical Research Council United Kingdom EU contribution € 0,00 Address University park NG7 2RD Nottingham See on map Tel Aviv University Israel EU contribution € 0,00 Address Ramat aviv 69978 Tel aviv See on map University of Leeds United Kingdom EU contribution € 0,00 Address Beckett street LS9 7TF Leeds See on map University of Manchester United Kingdom EU contribution € 0,00 Address Hathersage road M13 0JH Manchester See on map
