生命科学与医学奖
2022

2022年度邵逸夫生命科学与医学奖平均颁予保罗・内古列斯库(Paul A Negulescu)和迈克尔・威尔士(Michael J Welsh)，以表彰他们发现囊肿性纤维化是分子、生物化学和功能上出现缺陷所引致，以及鉴别和研发新药物去修复这些缺陷，因而能够治疗大多数患者。这些发现和药物不但减轻人类的痛苦，并拯救了无数生命。保罗·内古列斯库是美国福泰制药公司圣地亚哥研究部高级副总裁暨研究部主管。迈克尔·威尔士是美国爱荷华大学内科系肺科、重症监护和职业病医学教授;也是神经外科、神经科、分子生理及生物物理教授暨帕帕约翰生物医学研究所所长。

囊肿性纤维化(Cystic Fibrosis，缩写为CF)是一种很常见的严重单基因遗传疾病，全球有超过 80,000人受影响。发生突变而致病的单个基因称为囊肿性纤维化跨膜调节器(Cystic Fibrosis Transmembrane Conductance Regulator)，简称CFTR。CFTR蛋白的功能是确保氯离子的正常流动。氯离子是盐的一种成分，存在於人体分泌出来的体液，如汗液、唾液和黏液之中。这些液体能保持细胞润滑，对器官功能的正常运作十分重要。在囊肿性纤维化患者中，这些分泌物会变得浓缩而黏稠，不能充当润滑剂，尤其是肺部的分泌物，更会堵塞通道，引起致命的病变。很多CFTR中不同的突变都会导致患病，但其中一种称为F508del的突变尤其重要，因为大约百份之九十的患者的CFTR都发现带有这种突变。

The Shaw Prize in Life Science and Medicine 2022 is awarded in equal shares to Paul A Negulescu and Michael J Welsh for landmark discoveries of the molecular, biochemical, and functional defects underlying cystic fibrosis and the identification and development of medicines that reverse those defects and can treat most people affected by this disorder. Together, these discoveries and medicines are alleviating human suffering and saving lives.

Cystic fibrosis (CF) is one of the most common, severe single-gene disorders, affecting more than 80,000 people globally. The single gene in which the disease-causing mutations fall is called CFTR (cystic fibrosis transmembrane conductance regulator). The CFTR protein ensures the proper flow of chloride, a component of salt, that is present in secreted body fluids such as sweat, saliva and mucus. These fluids keep cells lubricated and are thus vital for the proper function of organs. In CF patients, these secretions become thick and sticky and, rather than acting as lubricants, clog passageways, especially in the lungs. The disease is fatal. There are many different mutations in CFTR that cause the disease, but a mutation called F508del is particularly important, and is present in about 90% of patients.