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面向高级执业提供者的神经退行性疾病遗传学

Genetics of neurodegenerative diseases for the advanced practice provider.

作者信息

Alexander Sheila A

机构信息

Acute & Tertiary Care, School of Nursing, Critical Care Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.

出版信息

J Am Assoc Nurse Pract. 2019 May;31(5):282-284. doi: 10.1097/JXX.0000000000000237.

DOI:10.1097/JXX.0000000000000237
PMID:31083007
Abstract

Neurodegenerative diseases are more common in older individuals and are progressively debilitating. Due to the aging of the American population, the burden of neurodegenerative diseases on the health care infrastructure will likely significantly increase in the near future. Genetic science has advanced our understanding of the pathology driving these diseases thereby informing new, individualized care paradigms. Although translation into clinical practice is slow, there are a few examples of instances where precision medicine is making a difference in the care of patients with neurodegenerative diseases that may be driven by genetic background. This article provides a brief overview of the current knowledge of genetic influences on two common neurodegenerative diseases, Alzheimer Disease and Parkinson Disease, as well as ways this knowledge is being tested for a precision medicine approach to care.

摘要

神经退行性疾病在老年人中更为常见,且会逐渐使人衰弱。由于美国人口老龄化,在不久的将来,神经退行性疾病给医疗保健基础设施带来的负担可能会显著增加。遗传科学加深了我们对引发这些疾病的病理学的理解,从而为新的个性化护理模式提供了依据。尽管转化为临床实践的速度较慢,但也有一些例子表明,精准医学正在对可能由遗传背景驱动的神经退行性疾病患者的护理产生影响。本文简要概述了目前关于遗传因素对两种常见神经退行性疾病——阿尔茨海默病和帕金森病——影响的知识,以及这些知识如何被用于测试针对护理的精准医学方法。

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