AXA Research Fund & Sorbonne University Chair, Paris, France.
Sorbonne University, GRC n° 21, Alzheimer Precision Medicine (APM), AP-HP, Pitié-Salpêtrière Hospital, Boulevard de l'hôpital, Paris, France.
J Alzheimers Dis. 2019;68(1):1-24. doi: 10.3233/JAD-181121.
Precision medicine (PM) is an evolving scientific renaissance movement implementing key breakthrough technological and scientific advances to overcome the limitations of traditional symptom- and sign-based phenotypic diagnoses and clinical "one-size-fits-all, magic bullet drug development" in these largely heterogeneous target populations. It is a conceptual shift from ineffective treatments for biologically heterogeneous "population averages" to individually-tailored biomarker-guided targeted therapies. PM is defining which therapeutic approach will be the most effective for a specific individual, at a determined disease stage, across multiple medical research fields, including neuroscience, neurology and psychiatry. The launch of the Alzheimer Precision Medicine Initiative (APMI) and its associated cohort program in 2016-facilitated by the academic core coordinating center run by the Sorbonne University Clinical Research Group in Alzheimer Precision Medicine (Sorbonne University GRC n°21 APM)"-is geared at transforming healthcare, conventional clinical diagnostics, and drug development research in Alzheimer's disease. Ever since the commencement of the APMI, the international interdisciplinary research network has introduced groundbreaking translational neuroscience programs on the basis of agnostic exploratory genomics, systems biology, and systems neurophysiology applying innovative "big data science", including breakthrough artificial intelligence-based algorithms. Here, we present the scientific breakthrough advances and the pillars of the theoretical and conceptual development leading to the APMI.
精准医学（PM）是一场正在发展的科学复兴运动，它运用关键的突破性技术和科学进步，克服了传统基于症状和体征的表型诊断以及在这些高度异质目标人群中临床“一刀切、万能药药物开发”的局限性。它是从针对生物学异质的“人群平均值”的无效治疗向个体化生物标志物指导的靶向治疗的概念转变。PM 正在确定哪种治疗方法在多个医学研究领域（包括神经科学、神经病学和精神病学）中，在特定的疾病阶段，对特定的个体最有效。2016 年，阿尔茨海默氏症精准医学倡议（APMI）及其相关队列计划的启动——由索邦大学临床研究组阿尔茨海默氏症精准医学协调中心（索邦大学 GRC n°21 APM）运行的学术核心协调中心提供便利——旨在改变阿尔茨海默氏病的医疗保健、常规临床诊断和药物开发研究。自 APMI 启动以来，国际跨学科研究网络在基于无偏见探索性基因组学、系统生物学和系统神经生理学的基础上，引入了开创性的转化神经科学计划，应用了创新的“大数据科学”，包括突破性的基于人工智能的算法。在这里，我们介绍了导致 APMI 的科学突破进展和理论与概念发展的支柱。
