Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Genetics and Development, Shanghai Jiao Tong University, Shanghai 200240, China; Shanghai Center for Women and Children's Health, Shanghai 200062, China.
Stanley Center, Broad Institute, Cambridge, MA 02142, USA.
J Genet Genomics. 2018 Nov 20;45(11):569-582. doi: 10.1016/j.jgg.2018.10.001. Epub 2018 Nov 3.
Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy, Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a well-constructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection, along with strong support at the national industry level.
医学遗传学是一门新兴的前沿学科,它专注于利用遗传学知识和方法来解决医学问题。在中国,医学遗传学研究活动是在薄弱的内部基础和繁荣的外部环境下起步的。在改革开放政策的 40 年里,中国科学家在医学遗传学领域做出了重大贡献,在世界范围内引起了广泛关注。在这篇综述中,我们重点介绍了中国科学家在单基因疾病、复杂疾病、癌症、遗传诊断以及基因操作和基因治疗方面的重要发现和/或结果。由于这些成就,中国被广泛认为处于医学遗传学研究和发展的前沿。然而,如果没有充足的资金和完善的物流网络,这些重大的进展和发展是不可能实现的。医学遗传学转化和精准医学的成功实施将取决于开放的伦理政策和知识产权保护,以及国家产业层面的大力支持。