HEREDITARY DEAFNESS WORKSHOP

很早以前就知道，遗传因素在 耳聋的病因以及综合征和非综合征形式的耳聋 耳聋表现出极端程度的多局部遗传异质性。 直到最近，基因的特征似乎还不可能 耳聋的证候可以超越临床层面。然而， 在过去的一年里，现代分子技术的应用 遗传学已经证明了如何将特定的基因定位于 遗传性耳聋的遗传连锁研究及基因克隆 它们具体参与了听觉器官的形成 通过特定的耳蜗区和前庭表情的发育 图书馆。这些进展有望导致快速克隆 可能导致耳聋的许多不同的基因。的决定 用“反向遗传学”的方法研究这些基因的蛋白质产物 应提供更多相关信息，以便充分理解 听觉的胚胎学和生理学 在过去的一个世纪中应用了更传统的方法。这个 产前诊断遗传性耳聋的能力将提高道德和 关于应用这一新知识的伦理问题是 在人类遗传学领域史无前例，而且必须开始 立即考虑。因此，现在是召开一次 第八届人类遗传学大会上的遗传性耳聋研讨会 会议将于1991年10月6日至11日在华盛顿特区举行。专家 来自世界各地的人将参加拟议的研讨会和 在这笔赠款中要求提供资金，以支持 参与者。

It has long been known that genetic factors play a major role in the etiology of deafness and that both syndromic and non-syndromic forms of deafness exhibit an extreme degree of multi-local genetic heterogeneity. Until recently, it seemed impossible that the characterization of genetic deafness syndromes could be carried beyond the clinical level. However, within the past year, the application of modern techniques of molecular genetics have shown how it is possible to localize specific genes for hereditary deafness by genetic linkage studies and how to clone genes that are specifically involved in the formation of the organ of hearing by the development of specific cochlear and vestibular expression libraries. These developments promise to lead to the rapid cloning of many of the different genes that can cause deafness. Determination of the protein products of these genes by the "reverse genetics" approach should yield more information relevant to a full understanding of the embryology and physiology of hearing than has been gained by the application of more conventional approaches during the past century. The ability to diagnose genetic deafness prenatally will raise moral and ethical questions about the application of this new knowledge that are unprecedented in the field of human genetics and must begin to be considered immediately. This is, thus, an opportune time to convene a workshop or, Hereditary Deafness at the 8th Congress of Human Genetics which will be held in Washington, D.C. from October 6-11, 1991. Experts from around the world will participate in the proposed workshop and funding is requested in this grant to support the travel and costs of the participants.