Suppr超能文献

基因组医学与神经疾病。

Genomic medicine and neurological disease.

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

出版信息

Hum Genet. 2011 Jul;130(1):103-21. doi: 10.1007/s00439-011-1001-1. Epub 2011 May 19.

Abstract

"Genomic medicine" refers to the diagnosis, optimized management, and treatment of disease--as well as screening, counseling, and disease gene identification--in the context of information provided by an individual patient's personal genome. Genomic medicine, to some extent synonymous with "personalized medicine," has been made possible by recent advances in genome technologies. Genomic medicine represents a new approach to health care and disease management that attempts to optimize the care of a patient based upon information gleaned from his or her personal genome sequence. In this review, we describe recent progress in genomic medicine as it relates to neurological disease. Many neurological disorders either segregate as Mendelian phenotypes or occur sporadically in association with a new mutation in a single gene. Heritability also contributes to other neurological conditions that appear to exhibit more complex genetics. In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds.

摘要

“基因组医学”是指在个体患者的个人基因组所提供的信息背景下,对疾病进行诊断、优化管理和治疗——以及进行筛查、咨询和疾病基因鉴定。在一定程度上与“个性化医学”同义的基因组医学,得益于近年来基因组技术的进步。基因组医学代表了一种新的医疗保健和疾病管理方法,试图根据从患者个人基因组序列中收集的信息来优化对患者的护理。在这篇综述中,我们描述了与神经疾病相关的基因组医学的最新进展。许多神经疾病要么作为孟德尔表型分离,要么偶尔与单个基因中的新突变相关联。遗传性也导致了其他似乎表现出更复杂遗传的神经疾病。除了讨论该领域的现有知识外,我们还就基因组医学领域的发展提出了在临床实践中最大限度地利用基因组信息的建议。

相似文献

1
Genomic medicine and neurological disease.基因组医学与神经疾病。
Hum Genet. 2011 Jul;130(1):103-21. doi: 10.1007/s00439-011-1001-1. Epub 2011 May 19.
6
Genomic medicine and risk prediction across the disease spectrum.基因组医学与疾病谱中的风险预测。
Crit Rev Clin Lab Sci. 2015;52(3):120-37. doi: 10.3109/10408363.2014.997930. Epub 2015 Jan 19.
7
Genomic research perspectives in Kazakhstan.哈萨克斯坦的基因组研究前景
Cent Asian J Glob Health. 2014 Jan 24;2(Suppl):101. doi: 10.5195/cajgh.2013.101. eCollection 2013.
8
Essential elements of personalized medicine.个性化医疗的基本要素。
Urol Oncol. 2014 Feb;32(2):193-7. doi: 10.1016/j.urolonc.2013.09.002. Epub 2013 Dec 8.
9
Implementation and utilization of genetic testing in personalized medicine.基因检测在个性化医疗中的实施与应用。
Pharmgenomics Pers Med. 2014 Aug 13;7:227-40. doi: 10.2147/PGPM.S48887. eCollection 2014.

引用本文的文献

1
Next-generation sequencing and bioinformatics in rare movement disorders.下一代测序和罕见运动障碍的生物信息学。
Nat Rev Neurol. 2024 Feb;20(2):114-126. doi: 10.1038/s41582-023-00909-9. Epub 2024 Jan 3.

本文引用的文献

10
New mutations and intellectual function.新突变与智力功能。
Nat Genet. 2010 Dec;42(12):1036-8. doi: 10.1038/ng1210-1036.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验