通过靶向修复受损DNA序列可成功治疗血友病（图）
最近美国的科学家们通过运用一种新型的基因治疗技术—基因组编辑，使得突变的DNA位点能被精确的去除并修复。科学家们用该方法成功的治疗了患有凝血障碍血友病的小鼠。这是首次报道的基因组编辑精确的靶向修复缺失的基因位点，并且在动物实验上成功的治疗了疾病。
这是近十年来在基因治疗研究道路上的一次重大飞跃—开创了修复受损DNA序列的新方法。通过运用遗传工程学的技术方法，研究者们制备了两种不同的腺相关病毒，一个带有能够精确切割DNA受损位点的酶，一个带有能重新拷贝正确DNA受损位点序列并取代之的基因序列。
这项研究的带头人Katherine A. High说道：“这项研究为临床上治疗由于基因缺失而导致的疾病带来了无限的可能”
详细的治疗方法已可以在Nature上可以看到。
生物探索推荐英文论文原文摘要：
In vivo genome editing restores haemostasis in a mouse model of haemophilia
Editing of the human genome to correct disease-causing mutations is a promising approach for the treatment of genetic disorders. Genome editing improves on simple gene-replacement strategies by effecting in situcorrection of a mutant gene, thus restoring normal gene function under the control of endogenous regulatory elements and reducing risks associated with random insertion into the genome. Gene-specific targeting has historically been limited to mouse embryonic stem cells. The development of zinc finger nucleases (ZFNs) has permitted efficient genome editing in transformed and primary cells that were previously thought to be intractable to such genetic manipulation. In vitro, ZFNs have been shown to promote efficient genome editing via homology-directed repair by inducing a site-specific double-strand break (DSB) at a target locus, but it is unclear whether ZFNs can induce DSBs and stimulate genome editing at a clinically meaningful level in vivo. Here we show that ZFNs are able to induce DSBs efficiently when delivered directly to mouse liver and that, when co-delivered with an appropriately designed gene-targeting vector, they can stimulate gene replacement through both homology-directed and homology-independent targeted gene insertion at the ZFN-specified locus. The level of gene targeting achieved was sufficient to correct the prolonged clotting times in a mouse model of haemophilia B, and remained persistent after induced liver regeneration. Thus, ZFN-driven gene correction can be achieved in vivo, raising the possibility of genome editing as a viable strategy for the treatment of genetic disease.
