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Omics in Neurodegenerative Disease: Hope or Hype?
Trends in Genetics ( IF 13.6 ) Pub Date : 2020-01-10 , DOI: 10.1016/j.tig.2019.12.002
Maria E Diaz-Ortiz 1 , Alice S Chen-Plotkin 2
Affiliation  

The past 15 years have seen a boom in the use and integration of 'omic' approaches (limited here to genomic, transcriptomic, and epigenomic techniques) to study neurodegenerative disease in an unprecedented way. We first highlight advances in and the limitations of using such approaches in the neurodegenerative disease literature, with a focus on Alzheimer's disease (AD), Parkinson's disease (PD), frontotemporal lobar degeneration (FTLD), and amyotrophic lateral sclerosis (ALS). We next discuss how these studies can advance human health in the form of generating leads for downstream mechanistic investigation or yielding polygenic risk scores (PRSs) for prognostication. However, we argue that these approaches constitute a new form of molecular description, analogous to clinical or pathological description, that alone does not hold the key to solving these complex diseases.

中文翻译:


神经退行性疾病的组学:希望还是炒作?



过去 15 年,“组学”方法(仅限于基因组学、转录组学和表观基因组技术)的使用和整合蓬勃发展,以前所未有的方式研究神经退行性疾病。我们首先强调神经退行性疾病文献中使用此类方法的进展和局限性,重点关注阿尔茨海默病 (AD)、帕金森病 (PD)、额颞叶变性 (FTLD) 和肌萎缩侧索硬化症 (ALS)。接下来我们讨论这些研究如何通过为下游机制研究提供线索或为预测提供多基因风险评分(PRS)来促进人类健康。然而,我们认为这些方法构成了一种新的分子描述形式,类似于临床或病理描述,仅靠这种方法并不能成为解决这些复杂疾病的关键。
更新日期:2020-01-10
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