阿奇博尔德·加罗德爵士与黑尿症——“代谢遗传学的故事”
Sir Archibald Garrod and alkaptonuria -'story of metabolic genetics'.
作者信息
Prasad C, Galbraith P A
机构信息
Department of Pediatrics, London Health Sciences Center, University of Western Ontario, London, Ontario, Canada.
出版信息
Clin Genet. 2005 Sep;68(3):199-203. doi: 10.1111/j.1399-0004.2005.00487.x.
Clinical disorders have intrigued the human mind for thousands of years. Many are enshrined in history as 'medical curiosities'. This report is a tribute to one of the greatest minds of modern genetics and medicine, Sir Archibald Edward Garrod (1857--1936), who brought forward the scientific study of inborn errors of metabolism. Garrod's concept of 'chemical individuality' with no awareness of 'genes' more than 100 years ago is an amazing example of futuristic thinking. His own words reflect this, 'Owing, as I believe, to their chemical individuality different human beings differ widely in their liability to individual maladies, and to some extent in the signs and symptoms which they exhibit'. The concept of chemical individuality is here to stay. Garrod has also provided insight into a number of scientific concepts and modern thinking.
数千年来，临床疾病一直吸引着人类的思维。许多疾病在历史上被奉为“医学奇闻”。本报告是对现代遗传学和医学最伟大的思想家之一阿奇博尔德·爱德华·加罗德爵士（1857 - 1936）的致敬，他开创了对先天性代谢缺陷的科学研究。100多年前，加罗德在没有意识到“基因”的情况下提出的“化学个体性”概念，是前瞻性思维的一个惊人范例。他自己的话反映了这一点：“我认为，由于他们的化学个体性，不同的人在患个体疾病的易感性以及他们表现出的一些体征和症状方面存在很大差异”。化学个体性的概念将继续存在。加罗德还为一些科学概念和现代思维提供了深刻见解。
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