单基因遗传疾病的基因疗法

 基因疗法是全球突破性技术之一,在单基因遗传疾病治疗中已取得突破性进展。阐述了不同的基因疗法策略、载体和基因编辑技术的特点,综述了脊髓性肌萎缩症、Leber先天性黑蒙2型、血友病、β-地中海贫血的发病机理、临床表现、基因疗法的开发进程以及临床试验情况。目前,上述4种单基因疾病的9种基因疗法已分别取得美国食品药品监督管理局突破性疗法资格、欧洲药品管理局的优先药物资格或者已经批准上市。基因疗法的研究还面临着许多挑战,但随着科学研究的深入和科学技术的不断发展,将有更多的患者获得治疗。

Gene therapy for monogenetic diseases

Gene therapy is one of the world's breakthrough technologies, which has made breakthrough progress in the treatment of monogenic diseases. In this article the characteristics of different gene therapy strategies, vectors and gene editing techniques are described, with focuses on reviewing pathogenesis, clinical manifestations, development process of gene therapy and clinical trials of spinal muscular atrophy (SMA), Leber congenital amaurosis type 2 (LCA2), hemophilia, and β-thalassemia. At present, 9 gene therapies of the above 4 monogenic diseases have earned "breakthrough therapy" designation by the U.S. Food and Drug Administration (FDA), PRIME designation by the European Medicines Agency (EMA) or have been the gene therapies available on the market. The research of gene therapy faces many challenges but with the development of science and technology more patients will get treatment.