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Human hereditary deafness - identification of genes, molecular diagnostic tests, epidemiological data, understanding pathogenesis and search for therapies

Objective

The project aims to address the needs of deaf patients 22.5 individual in the eu. By performing resaerech wich will lead to high quality genetic counselling and the discovery of curative treatements. To fulfil these expectations a number of human deafness will be isolated and moleculare daignastic test associated with a detailed clinicale description of the differnt gene defect will be developed. The major challenge i.e. the development nof new therapies will be tackled direclty as well as by elucuidating the underling dfective patwaays. To achieve this conplementary approaches will be set up and mouse and zebrafisch model for human daefness will be generated witch much effort on the connexin 26 gene defect 50% of congenitale deafness .the role of daefness gene in the susceptibility to environmentale causes of hearing loss .i.e. to noise and aminoglglycosides will be also analysed. Finally the consortium will produce epidemiologicale data on hereditary daefness in the eu.

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

INSTITUT PASTEUR
Address
Rue Du Docteur Roux 25
75724 Paris
France

Participants (5)

INSTITUTO NACIONAL DE LA SALUD
Spain
Address
Km9100,crta.de Colmenar Km 9
28034 Madrid
MEDICAL RESEARCH COUNCIL
United Kingdom
Address
Harwell
OX11 0RD Didcot,harwell,chilton
TEL AVIV UNIVERSITY
Israel
Address
Ramat-aviv
69978 Ramat - Aviv
UNIVERSITY OF LEEDS
United Kingdom
Address
Woodhouse Lane
Leeds
UNIVERSITY OF MANCHESTER
United Kingdom
Address
Oxford Road
M13 9PL Manchester