中华耳科学杂志Issue(1)：1-5,5.DOI:10.3969/j.issn.1672-2922.2014.01.001
耳聋基因诊断--转化医学推动耳科学发展的范例
Deafness Genetic Testing-an Example of Translational Medicine Accelerating the Progress of Otology
摘要
Abstract
Translational medicine is a multi-discipline syncretic field mainly from the development of genomics and bioinformatics. It can be broadly defined as‘bench to bedside’research. It advocates information obtained from preliminary human experiments be used to refine our understanding of the biological systems and principles underpinning different human diseases. This enables further development and enhancement of therapeutics for treating and preventing the disease. Deafness genetic testing has been practiced in China for more than 10 years. It not only reveals the exact molecular etiology for a great proportion of hearing impairment population, but also shows the carrying state of deafness genes/mutations among the families. Deafness genetic testing serves as the basis for genetic counseling, prenatal genetic diagnosis, and preimplantation genetic di-agnosis of deafness. It promotes the realization of primary, secondary and tertiary prevention of deafness. The advent of deaf-ness genetic testing elevates the diagnosis of hearing impairment from a radiological and audiological level to a molecular lev-el. Meanwhile, it underlies the future gene thearapy for deafness. The development of deafness genetic testing in China acceler-ates the progress of otology, which is an good example of translational medicine.关键词
耳聋/基因诊断/转化医学Key words
Deafess/Genetic Testing/Translational Medicine分类
医药卫生引用本文复制引用
袁永一,戴朴..耳聋基因诊断--转化医学推动耳科学发展的范例[J].中华耳科学杂志,2014,(1):1-5,5.基金项目
国家十二五支撑项目（2012BAI09B00，2012BAI12B01）；国家自然科学基金重点项目（81230020）；卫生部行业专项基金（201202005）；国家自然科学基金面上项目（81371096，81371098）；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 （）
