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
20141 Milano
Italy
Participants (36)
12288 Enskede
00144 Roma
60027 Osimo
Padova
2400 NV Koepenhagen
Cardiff
08003 Barcelona
69437 Lyon
9075 Tromsoe
3320 Skaevinge
80131 Napoli
75724 Paris
28034 Madrid
38100 Trento
20133 Milano
2333 AL Leiden
CB2 2XY Cambridge
9330 Dronninglund
701 82 Orebro
77140 Olomouc
8005 Zurich
6500 HB Nijmegen
69978 Ramat - Aviv
50013 Zaragoza
63177 Aubiere
44100 Ferrara
35128 Padova
2610 Wilrijk (Antwerpen)
WC1N 1EH London
2200 Koepenhagen
G12 8QQ Glasgow
LS16 9PL Leeds
M13 9PL Manchester
33014 Tampere
44100 Ferrara
1007 MB Amsterdam