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Content archived on 2024-05-24

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.

Fields of science (EuroSciVoc)

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Topic(s)

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Call for proposal

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Funding Scheme

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THN - Thematic network contracts

Coordinator

AMPLIFON SPA
EU contribution
No data
Address
Via Ripamonti 133
20141 MILANO
Italy

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Total cost

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Participants (36)

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