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罕见与常见:阿尔茨海默病药物研发中的规模与基因想象

The rare and the common: scale and the genetic imaginary in Alzheimer's disease drug development.

作者信息

Milne Richard

机构信息

Wellcome Genome Campus - Society and Ethics Research Group, Cambridge, UK.

Institute of Public Health, University of Cambridge, Cambridge, UK.

出版信息

New Genet Soc. 2019 Jul 16;39(1):101-126. doi: 10.1080/14636778.2019.1637718. eCollection 2020.

DOI:10.1080/14636778.2019.1637718
PMID:32256202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7077363/
Abstract

In this paper I examine how the promissory value of genetics is constituted through processes of scale and scaling, focussing on the relationship between "rare" and "common" forms of disease. I highlight the bodies and spaces involved in the production of post-genomic knowledge and technologies of Alzheimer's disease and the development of new disease-modifying drugs. I focus on the example of the development of a monoclonal antibody therapy for Alzheimer's disease. I argue that the process of therapeutic innovation, from genetic studies and animal models to phase III clinical trials, reflects the persistent importance of a genetic imaginary and a mutually constitutive relationship between the rare and the common in in shaping visions of Alzheimer's disease medicine. Approaching this relationship as a question of scale, I suggest the importance of attending to how and where genomic knowledge is "scaled" or proves resistant to scaling.

摘要

在本文中,我探讨了遗传学的承诺价值是如何通过规模和规模化过程构建的,重点关注疾病“罕见”形式与“常见”形式之间的关系。我强调了参与阿尔茨海默病后基因组知识和技术生产以及新型疾病修饰药物开发的身体和空间。我聚焦于一种用于阿尔茨海默病的单克隆抗体疗法的开发实例。我认为,从基因研究、动物模型到III期临床试验的治疗创新过程,反映了基因想象的持续重要性以及罕见与常见在塑造阿尔茨海默病医学愿景方面的相互构成关系。将这种关系视为一个规模问题,我指出关注基因组知识如何以及在何处“规模化”或证明对规模化具有抗性的重要性。

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本文引用的文献

1
Biomarkers and their consequences for the biomedical profession: a social science perspective.生物标志物及其对生物医学专业的影响:一种社会科学视角
Per Med. 2010 Jul;7(4):407-420. doi: 10.2217/pme.10.41.
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Trial of Solanezumab for Mild Dementia Due to Alzheimer's Disease.用于阿尔茨海默病所致轻度痴呆的 Solanezumab 试验。
N Engl J Med. 2018 Jan 25;378(4):321-330. doi: 10.1056/NEJMoa1705971.
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History as a biomedical matter: recent reassessments of the first cases of Alzheimer's disease.作为生物医学问题的历史:对阿尔茨海默病首例病例的近期重新评估
Hist Philos Life Sci. 2017 Nov 27;40(1):10. doi: 10.1007/s40656-017-0177-7.
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Stop Alzheimer's before it starts.在阿尔茨海默病发作之前阻止它。
Nature. 2017 Jul 12;547(7662):153-155. doi: 10.1038/547153a.
5
Have we seen the geneticisation of society? Expectations and evidence.我们见证了社会的基因化吗?期望与证据。
Sociol Health Illn. 2017 Sep;39(7):989-1004. doi: 10.1111/1467-9566.12551. Epub 2017 Mar 8.
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Solanezumab and the amyloid hypothesis for Alzheimer's disease.索拉珠单抗与阿尔茨海默病的淀粉样蛋白假说
BMJ. 2016 Dec 29;355:i6771. doi: 10.1136/bmj.i6771.
7
Sixty seconds on . . . solanezumab.六十秒倒计时……索拉珠单抗。
BMJ. 2016 Nov 29;355:i6389. doi: 10.1136/bmj.i6389.
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Drug development in Alzheimer's disease: the path to 2025.阿尔茨海默病的药物研发:通向2025年之路
Alzheimers Res Ther. 2016 Sep 20;8:39. doi: 10.1186/s13195-016-0207-9.
9
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Looping Genomes: Diagnostic Change and the Genetic Makeup of the Autism Population.循环基因组:自闭症群体的诊断变化与基因构成
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