The role of genetic factors in the causation of human deafness

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Abstract
An attempt will be made, partly based on personal studies, partly on other presentations at this round table, and partly on data from the literature, to provide a synthesis of current ideas concerning the hereditary determinants of hearing loss. The severe childhood forms of deafness, although rare, constitute a major handicap, while the milder forms, although they do not form such a disabling affliction, are exceedingly common in adults being, in part at least, an inescapable accompaniment of the ageing process. While acquired from of deafness are essentially avoidable, genetic types present a more intractable problem. Suggestions will be made about possible routes to follow in endeavors to elucidate the role of genetic factors in the causation of hearing loss by a combination of studies both in man and in laboratory mammals, utilizing techniques drawn from embryology, clinical nosology, population genetics, biochemistry, physiology, statistics, and other disciplines. Better definition of causation, delimitation of specific hereditary entities, and identification of the role which genes play in the determination of normal and pathological hearing may be expected to be followed by the introduction of improved protective and preventive measures such as avoidance of environmental insults in predisposed persons and genetic counseling in families at risk. Thus, the principles of effective prophylaxis and theraphy applicable to many other diseases may eventually be extended to genetically determined deafness.

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