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Genes go digital: Mendelian Inheritance in Man and the genealogy of electronic publishing in biomedicine
The British Journal for the History of Science ( IF 0.7 ) Pub Date : 2021-05-20 , DOI: 10.1017/s0007087421000224
Michael F McGovern 1
Affiliation  

Mendelian Inheritance in Man (MIM), a computerized catalogue of human genetic disorders authored and maintained by cardiologist and medical genetics pioneer Victor A. McKusick, played a major part in demarcating between a novel biomedical science and the eugenic projects of racial betterment which existed prior to its emergence. Nonetheless, it built upon prior efforts to systematize genetic knowledge tied to individuals and institutions invested in eugenics. By unpacking the process of digitizing a homespun cataloguing project and charting its development into an online database, this article aims to illuminate how the institution-building efforts of one individual created an ‘information order’ for accessing genetic information that tacitly shaped the norms and priorities of the field toward the pursuit of specific genes associated with discernible genetic disorders. This was not by design, but rather arose through negotiation with the catalogue's users; it accommodated further changes as biomedical research displaced the Mendelian paradigm. While great effort was expended toward making sequence data available to investigators during the Human Genome Project, MIM was largely taken for granted as a ‘legacy system’, McKusick's own labour of love. Drawing on recent histories of biomedical data, the article suggests that the bibliographical work of curation and translation is a central feature of value production in the life sciences meriting attention in its own right.



中文翻译:

基因数字化:人类的孟德尔遗传和生物医学电子出版的谱系

人类的孟德尔遗传MIM)),由心脏病学家和医学遗传学先驱 Victor A. McKusick 编写和维护的人类遗传疾病的计算机化目录,在区分新的生物医学科学和在其出现之前存在的种族改善优生项目方面发挥了重要作用。尽管如此,它建立在先前努力将与投资于优生学的个人和机构相关的遗传知识系统化的基础上。通过解开一个朴素的编目项目的数字化过程并将其发展绘制到一个在线数据库中,本文旨在阐明一个人的制度建设努力如何创建一个“信息秩序”来访问遗传信息,这些信息默认地塑造了规范和优先事项该领域致力于寻找与可辨别的遗传疾病相关的特定基因。这不是故意的,而是通过与目录的用户协商产生的;随着生物医学研究取代孟德尔范式,它适应了进一步的变化。虽然在人类基因组计划期间花费了大量精力为研究人员提供序列数据,MIM在很大程度上被认为是一个“遗留系统”,McKusick 自己的爱的劳动。文章借鉴了生物医学数据的近期历史,认为策展和翻译的书目工作是生命科学价值生产的核心特征,本身就值得关注。

更新日期:2021-05-20
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