European network on genetic deafness: pathogenic mechanisms, clinical and molecular diagnosis, social impact

Objective

Hearing disorders involve more than 10% of European population, 50% of which due to genetic causes. Since each has a rare prevalence, in order to optimise research, collect information and benefit larger portion of population, it is essential to create a European network of clinicians, researchers and hearing impaired support groups aimed at understanding pathogenic mechanisms of genetic hearing impairment (HI). It focuses on classes of HI with the highest prevalence and social impact: prevalence of mutations in the Cx26 (the most frequent cause of non-syndromic autosomal recessive HI) in myosin VIIA and ushering in individuals with Usher syndrome; phenotypic criteria for recognising subgroups of nonsyndromic HI, pathogenic models of aminoglycoside/ototoxicity and other forms of mitochondrial deafness. Psychosocial impact of genetic HI on individuals and families is investigated. A bulletin targeted to patients/families is circulated.

Programme(s)

• FP5-LIFE QUALITY - Specific Programme for research, technological development and demonstration on "Quality of life and management of living resources", 1998-2002

Topic(s)

• 1.1.1.-7. - Chronic and degenerative diseases, cancer, diabetes, cardivascular diseases and rare diseases

Funding Scheme

THN - Thematic network contracts

Coordinator

AMPLIFON SPA

Address

Via Ripamonti 133
20141 Milano
Italy

Participants (36)

ASSOCIATION OF SWEDISH DEAFBLIND

Sweden

Address

Sandsborgsvagen 44
12288 Enskede

ASSOCIAZIONE ITALIAN RICERCA SORDITA

Italy

Address

Via Cesare Pavese 304
00144 Roma

ASSOCIAZIONE LEGA DEL FILO D'ORO ONLUS

Italy

Address

Via Montecerno 1
60027 Osimo

AZIENDA OSPEDALIERA DI PADOVA

Italy

Address

Via Giustiniani 1
Padova

BISPEBJERG HOSPITAL

Denmark

Address

Bispebjerk Bakke 23
2400 NV Koepenhagen

CARDIFF UNIVERSITY

United Kingdom

Address

Newport Road 30-36
Cardiff

CENTER FOR GENOMIC REGULATION

Spain

Address

Dr.aiguader, 80
08003 Barcelona

CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE

France

Address

Hopital Edouard Herriot, Pavillon U
69437 Lyon

DEAFBLINDNESS CENTER OF NORTHERN NORWAY

Norway

Address

Gimleveien 64-68
9075 Tromsoe

DECIBEL, FAMILIEFORENINGEN FOR COCHLEAR IMPLANTEREDEBOERN

Denmark

Address

Dyrelunden 1
3320 Skaevinge

FONDAZIONE TELETHON

Italy

Address

Via Pietro Castellino 111
80131 Napoli

INSTITUT PASTEUR

France

Address

Rue Du Docteur Roux 25, Bètiment Des Biotechnologi
75724 Paris

INSTITUTO NACIONAL DE LA SALUD

Spain

Address

Km 9.1,Crtra Colmenar Km 9.1
28034 Madrid

INTERNATIONAL FEDERATION OF HARD OF HEARING YOUNG PEOPLE

Italy

Address

Via Oriola 12
38100 Trento

ISTITUTO NAZIONALE NEUROLOGICO 'CARLO BESTA'

Italy

Address

Via Celoria 11
20133 Milano

LEIDEN UNIVERSITY

Netherlands

Address

Wassenaarseweg 72
2333 AL Leiden

MEDICAL RESEARCH COUNCIL

United Kingdom

Address

Welcome Trust, Mrc Building, Hills Road
CB2 2XY Cambridge

NORDIC STAFF TRAINING CENTRE FOR DEAFBLIND SERVICES

Denmark

Address

Slotsgade 8
9330 Dronninglund

OEREBRO UNIVERSITY

Sweden

Address

701 82 Orebro

PALACKY UNIVERSITY IN OLOMOUC

Czechia

Address

Zizkovo Namesti, 5
77140 Olomouc

RETINA INTERNATIONAL

Switzerland

Address

Ausstellungsstrasse 36
8005 Zurich

STICHTING KATHOLIEKE UNIVERSITEIT

Netherlands

Address

Philips Van Leydenlaan 15
6500 HB Nijmegen

TEL AVIV UNIVERSITY

Israel

Address

Ramat Aviv
69978 Ramat - Aviv

UNIVERSIDAD DE ZARAGOZA

Spain

Address

177,Miguel Servet 177
50013 Zaragoza

UNIVERSIT BLAISE PASCAL CLERMONT-FERRAND II

France

Address

Avenue Des Landais 24
63177 Aubiere

UNIVERSIT DEGLI STUDI DI FERRARA

Italy

Address

Corso Della Giovecca 203
44100 Ferrara

UNIVERSITA DEGLI STUDI DI PADOVA

Italy

Address

Via Giustiniani 3
35128 Padova

UNIVERSITAIRE INSTELLING ANTWERPEN - UNIVERSITEIT ANTWERPEN

Belgium

Address

1,Universiteitsplein 1
2610 Wilrijk (Antwerpen)

UNIVERSITY COLLEGE LONDON

United Kingdom

Address

Guilford Street 30
WC1N 1EH London

UNIVERSITY OF COPENHAGEN

Denmark

Address

Blegdamsvej 3
2200 Koepenhagen

UNIVERSITY OF GLASGOW

United Kingdom

Address

Dumbarton Road 56
G12 8QQ Glasgow

UNIVERSITY OF LEEDS

United Kingdom

Address

Claredon Road 71-75
LS16 9PL Leeds

UNIVERSITY OF MANCHESTER

United Kingdom

Address

Oxford Road
M13 9PL Manchester

UNIVERSITY OF TAMPERE

Finland

Address

6,Lenkkeilijänkatu 6
33014 Tampere

UNIVERSITÀ DEGLI STUDI DI FERRARA

Italy

Address

Corso Giovecca 203
44100 Ferrara

VRIJE UNIVERSITEIT AMSTERDAM - VERENIGING VOOR CHRISTELIJK WETENSCHAPPELIJK ONDERWIJS

Netherlands

Address

De Boelelaan 1117
1007 MB Amsterdam