摘要
脊髓性肌萎缩症(spinal muscular atrophy,SMA)从医学文献中的首例病例报道至今已跨越百年。在这百余年的发展历程中,SMA经历了临床描述、病例积累、疾病分型探索、致病基因定位与克隆、基因诊断临床应用、动物模型建立、疾病修正治疗药物研发与患者使用等诸多阶段,未来SMA还要向发病机制研究、携带者筛查与精准预防,以及新治疗探索等方向发展。作为单基因遗传病的代表,回顾SMA诊治进步历程、新药研发过程和未来发展方向,有助于引领和带动整个罕见病领域的进步,助推罕见病事业不断向前发展。
It has been a hundred years since the first case of spinal muscular atrophy(SMA)was re⁃ported in the medical literature.In its 100 years of history,medical development for the cure of SMA has gone through many stages,from clinical manifestation description,accumulation of cases,disease classification ex⁃ploration to pathogenic gene mapping and cloning,clinical application of gene diagnosis,animal model estab⁃lishment then to R&D of disease modifying drugs and clinical use of novel therapies.The future of the develop⁃ment lies in breakthrough in pathophysiological mechanism,carrier screening and precise prevention,as well as new therapies.As a representative of monogenic rare diseases,review the history of the progress in diagnosis and treatment and R&D in medications and discuss the prospect of further development in the future is instru⁃mental in leading the continued advancement of the whole cause of rare disease.
作者
戴毅
崔丽英
DAI Yi;CUI Liying(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《罕见病研究》
2022年第1期28-33,共6页
Journal of Rare Diseases
关键词
脊髓性肌萎缩症
疾病修正治疗
基因治疗
基因诊断
携带者筛查
spinal muscular atrophy(SMA)
disease modifying therapy
gene therapy
genetic testing
carrier screening
