Legacies of Garrod's brilliance. One hundred years-and counting
Legacies of Garrod's brilliance. One hundred years-and counting
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DOI：
10.1007/s10545-008-0985-8
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发表时间：
2008-10-01
影响因子：
4.2
通讯作者：
Rosenberg, L. E.
中科院分区：
文献类型：
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作者：
Rosenberg, L. E.
一百年前，即 1908 年，阿奇博尔德·加罗德发表了四场克鲁尼讲座。在这些以前被遗忘但现在著名的论文中，加罗德首次使用“先天性代谢缺陷”这一表达方式来描述四种罕见疾病：白化病、黑酸尿症、胱氨酸尿症和戊糖尿症。这项有先见之明的工作提出，此类疾病是由氨基酸和糖的分解代谢途径中的酶促缺陷引起的。因此，加罗德可以名副其实地被称为第一位人类遗传学家。受到同事贝特森的影响，贝特森引起了他的注意，加罗德是第一个将格雷戈尔·孟德尔的基因分离定律应用于人类的人，第一个提出人类隐性遗传的人，第一个指出血缘关系重要性的人。他甚至提到了种族在遗传性疾病中的作用。这已经足够成为遗产了，但加罗德做了更多的事情。他还写过其他“现代”主题，例如常见疾病的遗传倾向；同时也是科学家的医生至关重要；以及大学在社会中的适当作用。尽管加罗德的作品和思想在他生前并未受到赞赏，但自此以后，它们一直在回响和回响。他理所当然地被视为 20 世纪最深刻的知识分子之一，他对科学和医学的遗产的价值不断增加。我们所有研究先天性代谢缺陷并运用我们的知识希望改善受影响患者的诊断和治疗的人，都是真正意义上的加洛迪亚人。
One hundred years ago-in 1908-Archibald Garrod delivered his four Croonian Lectures. In these formerly forgotten, but now famous, dissertations, Garrod first used the expression, 'inborn errors of metabolism', to describe four rare disorders: albinism, alkaptonuria, cystinuria, and pentosuria. This prescient work proposed that such disorders resulted from enzymatic defects in the catabolic pathways for amino acids and sugars. Thus, Garrod can rightfully be called the first human geneticist. Much influenced by his colleague Bateson, who brought Mendel's work to his attention, Garrod then was the first to apply Gregor Mendel's law of gene segregation to humans, the first to propose recessive inheritance in humans, and the first to point out the importance of consanguinity. He even mentioned the role of ethnicity in inherited disorders. This would have been legacy enough, but Garrod did much more. He wrote about such other 'modern' topics as genetic predisposition to common disorders; the critical importance of physicians who were also scientists; and the proper role of the university in society. Although Garrod's work and ideas were not appreciated during his lifetime, they have echoed and reverberated ever since. He can rightly be deemed one of the most profound intellectuals of the 20th century, whose bequests to science and medicine continue to increase in value. All of us who study inborn errors of metabolism and who apply our knowledge in the hope of improving the diagnosis and treatment of affected patients are, in a genuine sense, Garrodians.