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.

gene therapy  /  spinal muscular atrophy  /  Leber congenital amaurosis type 2  /  hemophilia  /  β-thalassemia