生命科学与医学奖
2019

2019年度邵逸夫生命科学与医学奖颁予玛丽亚・杰辛 (Maria Jasin)，以表彰她证明去氧核醣核酸中定点双链断裂会刺激哺乳动物细胞的基因重组。这项开创性工作奠定了并直接引至能编辑哺乳动物基因特定位置的工具的产生。玛丽亚・杰辛是美国纪念斯隆凯特琳癌症中心成员和美国康奈尔大学威尔康奈尔医科研究生院教授。

我们正处於快有能力使用精确的基因编辑工具去改变地球上近乎所有生物的基因组的时刻。在不久的将来，将可能通过在染色体精确位置引发特定的改变来治疗人类和动物的遗传病，又或提高农业生产力。这个革命性的工具称为CRISPR / Cas9，其发展归功於世界各地的研究人员。但这种技术的进步源自玛丽亚・杰辛於1994年作出的一项重要的发现，她证明在哺乳动物染色体的定点双链断裂，可以通过重组和染色体末端连接两种不同的正常细胞过程来修复 。

Human chromosomes often undergo breakage due to agents that damage the DNA. It is critical to repair such breaks, to maintain genome integrity and to prevent mutations that can give rise to cancer. All organisms have the capacity to repair such breaks by a process called homologous recombination, which restores the continuity of the genome without introducing mutations. A non-homologous recombination process, called end-joining, often introduces mutations and thus is only used by a cell when homologous recombination is not possible. Maria Jasin pioneered genetic and physical assays for recombination in human cells and she was the first scientist to directly demonstrate the importance of both homologous recombination and non-homologous end-joining for repair of chromosomal breaks. Her discovery has important implications for both normal cellular function, embryonic development, fertility, and for the etiology of diseases such as cancer. In the course of this work, Dr Jasin demonstrated that breaks in chromosomes greatly increase the frequency of recombination at the site of the break. This important discovery laid the groundwork for efficient modification of mammalian genomes by site-specific nucleases, an approach that is currently being widely exploited for gene therapy and basic research.