THE FUNDAMENTAL AND MEDICAL IMPACTS OF RECENT PROGRESS IN RESEARCH ONHEREDITARY HEARING-LOSS

What would define real progress in the field of deafness research in f undamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and phy siology of the ear, In medical terms, progress would lead to the divis ion of the broad category of hearing defects into distinct clinical en tities or subclasses, the collection of epidemiological data, the crea tion of molecular diagnostic tests, the improvement of genetic counsel ling services and the development of new therapeutics, In this review, we will introduce some general considerations on hereditary hearing l oss and on the structure and function of the ear, present the rapidly emerging data on the molecular basis of syndromic and non-syndromic fo rms of hearing loss and comment on relevant recent progress in this fi eld of research, Generally speaking, the isolation of genes underlying hereditary hearing loss has, as yet, had little impact on our underst anding of the biology of the ear, whereas it has made major contributi ons to the medical field, in particular due to the recognition of two genes, Cx26 and mitochondrial 12S rRNA, as frequently underlying cases of non-syndromic hearing impairment.