高级基因组分析在脑瘫中的潜在临床应用。

IF 9.7 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
EBioMedicine Pub Date : 2024-08-01 Epub Date: 2024-07-05 DOI:10.1016/j.ebiom.2024.105229
Sara A Lewis, Andrew Ruttenberg, Tuğçe Iyiyol, Nahyun Kong, Sheng Chih Jin, Michael C Kruer
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引用次数: 0

摘要

脑性瘫痪(CP)历来被归咎于后天损伤,但新兴研究表明,基因变异也是导致 CP 的重要原因。虽然基于芯片和全外显子组测序的研究是建立新的 CP 基因关系和为个别患者提供遗传病因的主要方法,但许多 CP 患者的病因仍然不明。基因组技术的最新进展为揭示人类基因组、转录组和表观基因组中以前无法检测到的变异提供了更多机会。在这篇综述中,我们概述了如何利用这些最先进的技术来应对 CP 患者在分子诊断方面遇到的挑战。我们还探讨了尽可能确定分子病因的重要性,因为基因组医学有可能为以新的和更精确的方式治疗 CP 患者提供机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Potential clinical applications of advanced genomic analysis in cerebral palsy.

Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection. In this review, we outline the use of these state-of-the-art technologies to address the molecular diagnostic challenges experienced by individuals with CP. We also explore the importance of identifying a molecular etiology whenever possible, given the potential for genomic medicine to provide opportunities to treat patients with CP in new and more precise ways.

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来源期刊
EBioMedicine
EBioMedicine Biochemistry, Genetics and Molecular Biology-General Biochemistry,Genetics and Molecular Biology
CiteScore
17.70
自引率
0.90%
发文量
579
审稿时长
5 weeks
期刊介绍: eBioMedicine is a comprehensive biomedical research journal that covers a wide range of studies that are relevant to human health. Our focus is on original research that explores the fundamental factors influencing human health and disease, including the discovery of new therapeutic targets and treatments, the identification of biomarkers and diagnostic tools, and the investigation and modification of disease pathways and mechanisms. We welcome studies from any biomedical discipline that contribute to our understanding of disease and aim to improve human health.
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