Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands
Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands.
Dis Model Mech. 2019 Oct 1;13(2):dmm041673. doi: 10.1242/dmm.041673.
For many genetic diseases, researchers are developing personalized medicine approaches. These sometimes employ custom genetic interventions such as antisense-mediated exon skipping or genome editing, aiming to restore protein function in a mutation-specific manner. Animal models can facilitate the development of personalized medicine approaches; however, given that they target human mutations and therefore human genetic sequences, scientists rely on the availability of humanized animal models. Here, we outline the usefulness, caveats and potential of such models, using the example of the hDMDdel52/ model, a humanized model recently generated for Duchenne muscular dystrophy (DMD).
对于许多遗传疾病，研究人员正在开发个性化医疗方法。这些方法有时采用定制的基因干预措施，如反义介导的外显子跳跃或基因组编辑，旨在以突变特异性的方式恢复蛋白质功能。动物模型可以促进个性化医疗方法的发展；然而，由于它们针对的是人类突变，因此针对人类遗传序列，科学家们依赖于可获得的人源化动物模型。在这里，我们以最近为杜氏肌营养不良症（DMD）生成的人源化模型 hDMDdel52/ 为例，概述了此类模型的有用性、注意事项和潜力。
