基因醫學於耳科疾病之新進展

New Horizons of Genetic Medicine in Otological Diseases

吳振吉(Chen-Chi Wu) ； 許權振(Chuan-Jen Hsu)

《台灣耳鼻喉頭頸外科雜誌》 47卷2期 (2012/04) Pp. 91-99

https://doi.org/10.6286/2012.47.2.91

摘要

對於臨床耳鼻喉科醫師而言，晚近基因醫學之進步，無論係在聽損之診斷、篩檢、遺傳諮詢、乃至於治療等方面，均帶來革命性的進展。於現在及可預見的未來，次世代定序將可使吾人為特發性感音型聽損病人提供更精確、更全面性之基因診斷；應用血片進行新生兒耳聾基因變異篩檢則有助於臨床醫師更早期地偵測聽損病童，以達成早期發現、早期介入之目標；基因檢測臨床應用之細緻化將有助於個人化醫療之實現；針對常見耳聾基因變異所建立之動物模式，有助於釐清致病機制，為治療帶來新曙光；而針對其他常見耳疾如老年性聽損、噪音性聽損之基因研究，則有助於臨床醫師瞭解疾病成因，擬定預防及治療之策略。

關鍵字

基因醫學 ； 次世代定序 ； 新生兒基因篩檢 ； 個人化醫療 ； 基因轉殖鼠

並列摘要

Recent advancements in genetic medicine have revolutionized the clinical management of hearing-impaired patients in terms of genetic diagnosis, genetic screening, genetic counseling and treatment. In the foreseeable future, more precise and comprehensive genetic diagnosis for idiopathic sensorineural hearing impairment will be achieved by using the next generation sequencing technique. Newborn genetic screening for deafness may compensate for the inherent limits of newborn hearing screening for deafness, and may be useful in identifying hearing-impaired children at an earlier age. Clinical application of genetic testing will be more and more delicate, enabling personalized medicine in the near future. The establishment of transgenic mouse models may provide insights into the pathogenesis of common deafness mutations, and will be valuable in developing novel therapeutic strategies accordingly. Genetic studies for other common otological diseases, such as age-related hearing impairment and noise-induced hearing loss, will improve our understanding of the pathogenetic mechanisms, contributing to more effective prevention and treatment.

並列關鍵字

genetic medicine ； next generation sequencing ； newborn genetic screening ； personalized medicine ； transgenic mice