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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.

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