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Contenido archivado el 2024-04-30

Human inherited neurosensorial deafness: cloning of the genes responsible and molecular approaches towards the understanding of the pathogenesis

Objetivo



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.

Convocatoria de propuestas

Data not available

Régimen de financiación

CSC - Cost-sharing contracts

Coordinador

Institut Pasteur
Aportación de la UE
Sin datos
Dirección
25,rue du Dr. Roux
75724 Paris
Francia

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Coste total
Sin datos

Participantes (5)