Alzheimer’s disease has been a reference point for the promise and potential of genetic and genomic science from 1980s molecular biology through the sequencing of the human genome to ongoing efforts to identify new disease-associated loci and polygenic risk scores. Alzheimer’s disease research speaks to the potential of biomedicine to address fundamental problems of human existence, such as ageing and loss of personhood. Yet the relationship between “bench and bedside” has been rocky. A decade after one of the headline findings of Alzheimer’s disease genetics, the identification of the ApoE e4 risk allele, Lock and colleagues argued that “no findings that derive from knowledge about the genetics of [Alzheimer’s disease] have as yet resulted in clear advances of any kind in the prevention or treatment of the disease” (Lock, Lloyd, and Prest 2006, 130). In subsequent years, new therapies, disease models and technologies have repeatedly run aground on the challenges presented by a complex, late-onset condition, while their pursuit prompts concern that attention is being deflected from care and social support in the context of austerity and diminishing collective responses to care in later life. Alzheimer’s disease research, as with other areas of postgenomic science, continues to “promise big” (Richardson and Stevens 2015, 239). However, encounters between Alzheimer’s, genetics and postgenomic biomedicine over the last decades have resulted in consequential changes in how knowledge about the condition is generated, how the relationship between dementia and ageing is understood and how diagnosis and care are conceptualized and practice. The papers in this special issue chart key dimensions of this changing landscape of Alzheimer’s disease, including the problematic relationship between the bench and the bedside in the contemporary moment, and explore the various individual, scientific and societal futures that each dimension implies. They build on papers and conversations at a workshop at the Brocher Foundation in 2016 on “The redefinition of Alzheimer’s disease and its social and ethical consequences.”

中文翻译：

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阿尔茨海默病和后基因组科学的发展

从 1980 年代的分子生物学到人类基因组测序，再到不断努力确定新的疾病相关位点和多基因风险评分，阿尔茨海默病一直是遗传和基因组科学前景和潜力的参考点。阿尔茨海默病研究表明生物医学具有解决人类生存基本问题的潜力，例如衰老和人格丧失。然而，“长凳和床边”之间的关系一直不稳定。在阿尔茨海默病遗传学的主要发现之一、ApoE e4 风险等位基因的鉴定十年之后，Lock 及其同事认为，“迄今为止，还没有从 [阿尔茨海默病] 遗传学知识中得出的发现对预防或治疗疾病的任何形式”（Lock、Lloyd 和 Perst 2006，130)。在随后的几年里，新的疗法、疾病模型和技术一再因复杂的迟发疾病所带来的挑战而搁浅，而他们的追求引发了人们的担忧，即在紧缩和日益减少的背景下，人们的注意力正在从护理和社会支持上转移。对晚年护理的集体反应。与后基因组科学的其他领域一样，阿尔茨海默病研究继续“大有希望”（Richardson 和 Stevens 2015, 239）。然而，在过去的几十年里，阿尔茨海默氏症、遗传学和后基因组生物医学之间的相遇导致了有关疾病知识的产生方式、痴呆症与衰老之间的关系的理解方式以及诊断和护理的概念化和实践方式发生了相应的变化。本期特刊中的论文描绘了阿尔茨海默病这一不断变化的格局的关键维度，包括当代板凳和床边之间存在问题的关系，并探索每个维度所暗示的各种个人、科学和社会未来。他们以 2016 年 Brocher 基金会关于“阿尔茨海默病的重新定义及其社会和伦理后果”的研讨会上的论文和对话为基础。