耳聋基因诊断——转化医学推动耳科学发展的范例

发布时间：2018-11-21 19:20

【摘要】：转化医学致力于弥合基础研发与临床应用之间的鸿沟,在基础医学与临床医学之间建立起桥梁,是将从基础研究获得的知识、成果快速转化为临床诊断治疗方法的新医学理念。耳聋基因诊断在国内开展已有10余年,为相当部分的耳聋患者(特别是儿童耳聋患者)揭示了分子病因,为耳聋家庭提供了致病基因的携带状况和遗传规律等信息,为耳聋的遗传咨询、产前诊断及出生缺陷预防的临床实践提供了理论基础和技术保障,促进了聋病三级预防的实现。耳聋基因诊断的出现和发展推动了耳聋的诊断由影像和听力学水平跃升至分子水平,也为耳聋基因治疗的基础研究奠定了坚实的基础,是转化医学推动疾病防治的范例,对耳学科、康复科学和优生优育科学的发展起到了积极作用。
[Abstract]:Translational medicine aims to bridge the gap between basic research and clinical application and to build a bridge between basic medicine and clinical medicine. It is a new medical idea to quickly transform the knowledge and achievements from basic research into clinical diagnosis and treatment methods. Genetic diagnosis of deafness has been carried out for more than 10 years in China. It has revealed molecular etiology for a large number of deafness patients, especially in children, and provided information on the carrying status and genetic law of the pathogenic genes for deafness families. It provides theoretical basis and technical guarantee for genetic counseling, prenatal diagnosis and prevention of birth defects, and promotes the realization of three-level prevention of deafness. The emergence and development of genetic diagnosis of deafness have promoted the diagnosis of deafness from image and audiology to molecular level, and have laid a solid foundation for the basic research of gene therapy of deafness, and are examples of transforming medicine to promote the prevention and treatment of diseases. It plays a positive role in the development of ear science, rehabilitation science and eugenic science.
【作者单位】：解放军总医院耳鼻咽喉头颈外科;解放军总医院聋病分子诊断中心;解放军总医院海南分院耳鼻咽喉头颈外科;
【基金】：国家十二五支撑项目(2012BAI09B00,2012BAI12B01) 国家自然科学基金重点项目(81230020);国家自然科学基金面上项目(81371096,81371098) 卫生部行业专项基金(201202005) 北京市自然科学基金面上项目(7132177,7122172) 北京市科技新星计划(2009B34,2010B081) 国家高技术研究发展计划(“863”,2012AA020101)
【分类号】：R764.43

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