生命科學與醫學獎
2019

2019年度邵逸夫生命科學與醫學獎頒予瑪麗亞・傑辛 (Maria Jasin)，以表彰她證明去氧核醣核酸中定點雙鏈斷裂會刺激哺乳動物細胞的基因重組。這項開創性工作奠定了並直接引至能編輯哺乳動物基因特定位置的工具的產生。瑪麗亞・傑辛是美國紀念斯隆凱特琳癌症中心成員和美國康奈爾大學威爾康奈爾醫科研究生院教授。

我們正處於快有能力使用精確的基因編輯工具去改變地球上近乎所有生物的基因組的時刻。在不久的將來，將可能通過在染色體精確位置引發特定的改變來治療人類和動物的遺傳病，又或提高農業生產力。這個革命性的工具稱為CRISPR / Cas9，其發展歸功於世界各地的研究人員。但這種技術的進步源自瑪麗亞・傑辛於1994年作出的一項重要的發現，她證明在哺乳動物染色體的定點雙鏈斷裂，可以通過重組和染色體末端連接兩種不同的正常細胞過程來修復 。

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.