生命科學與醫學獎
2022

2022年度邵逸夫生命科學與醫學獎平均頒予保羅・內古列斯庫(Paul A Negulescu)和邁克爾・威爾士(Michael J Welsh)，以表彰他們發現囊腫性纖維化是分子、生物化學和功能上出現缺陷所引致，以及鑑別和研發新藥物去修復這些缺陷，因而能夠治療大多數患者。這些發現和藥物不但減輕人類的痛苦，並拯救了無數生命。保羅·內古列斯庫是美國福泰製藥公司聖地亞哥研究部高級副總裁暨研究部主管。邁克爾·威爾士是美國愛荷華大學內科系肺科、重症監護和職業病醫學教授;也是神經外科、神經科、分子生理及生物物理教授暨帕帕約翰生物醫學研究所所長。

囊腫性纖維化(Cystic Fibrosis，縮寫為CF)是一種很常見的嚴重單基因遺傳疾病，全球有超過 80,000人受影響。發生突變而致病的單個基因稱為囊腫性纖維化跨膜調節器(Cystic Fibrosis Transmembrane Conductance Regulator)，簡稱CFTR。CFTR蛋白的功能是確保氯離子的正常流動。氯離子是鹽的一種成分，存在於人體分泌出來的體液，如汗液、唾液和黏液之中。這些液體能保持細胞潤滑，對器官功能的正常運作十分重要。在囊腫性纖維化患者中，這些分泌物會變得濃縮而黏稠，不能充當潤滑劑，尤其是肺部的分泌物，更會堵塞通道，引起致命的病變。很多CFTR中不同的突變都會導致患病，但其中一種稱為F508del的突變尤其重要，因為大約百份之九十的患者的CFTR都發現帶有這種突變。

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.