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基因组时代与口腔医学

The Era of the Genome and Dental Medicine.

机构信息

1 Department of Pediatric Dentistry, School of Dentistry, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.

2 Department of Epidemiology, Gillings School of Global Health, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.

出版信息

J Dent Res. 2019 Aug;98(9):949-955. doi: 10.1177/0022034519845674.

Abstract

Understanding the "code of life" and mapping the human genome have been monumental and era-defining scientific landmarks-analogous to setting foot on the moon. The last century has been characterized by exponential advances in our understanding of the biological and specifically molecular basis of health and disease. The early part of the 20th century was marked by fundamental theoretical and scientific advances in understanding heredity, the identification of the DNA molecule and genes, and the elucidation of the central dogma of biology. The second half was characterized by experimental and increasingly molecular investigations, including clinical and population applications. The completion of the Human Genome Project in 2003 and the continuous technological advances have democratized access to this information and the ability to generate health and disease association data; however, the realization of genomic and precision medicine, to practically improve people's health, has lagged. The oral health domain has made great strides and substantially benefited from the last century of advances in genetics and genomics. Observations regarding a hereditary component of dental caries were reported as early as the 1920s. Subsequent breakthroughs were made in the discovery of genetic causes of rare diseases, such as ectodermal dysplasias, orofacial clefts, and other craniofacial and dental anomalies. More recently, genome-wide investigations have been conducted and reported for several diseases and traits, including periodontal disease, dental caries, tooth agenesis, cancers of the head and neck, orofacial pain, temporomandibular disorders, and craniofacial morphometrics. Gene therapies and gene editing with CRISPR/Cas represent the latest frontier surpassed in the era of genomic medicine. Amid rapid genomics progress, several challenges and opportunities lie ahead. Importantly, systematic efforts supported by implementation science are needed to realize the full potential of genomics, including the improvement of public and practitioner genomics literacy, the promotion of individual and population oral health, and the reduction of disparities.

摘要

了解“生命密码”和绘制人类基因组图谱是具有重大意义的、划时代的科学里程碑——堪比人类登月。上个世纪,我们对健康和疾病的生物学基础,特别是分子基础的理解突飞猛进。20 世纪早期的标志是在理解遗传、DNA 分子和基因的识别以及生物学中心法则方面的理论和科学的重大突破。后半期的特点是实验性的、越来越分子性的研究,包括临床和人群应用。2003 年人类基因组计划的完成和持续的技术进步使人们能够民主化地获取这些信息,并生成健康和疾病关联数据;然而,基因组学和精准医学的实现,实际上改善了人们的健康状况,却一直滞后。口腔健康领域在上个世纪的遗传学和基因组学进步中取得了巨大进展,并从中受益匪浅。早在 20 世纪 20 年代就有报道称龋齿具有遗传性。随后,在发现罕见疾病(如外胚层发育不良、口腔颌面裂和其他颅面及牙齿异常)的遗传原因方面取得了突破性进展。最近,已经对几种疾病和特征进行了全基因组调查和报告,包括牙周病、龋齿、牙齿缺失、头颈部癌症、口腔疼痛、颞下颌关节紊乱和颅面形态计量学。基因疗法和 CRISPR/Cas 基因编辑代表了基因组医学时代的最新突破。在快速的基因组学进步中,仍有一些挑战和机遇摆在面前。重要的是,需要有实施科学支持的系统努力来实现基因组学的全部潜力,包括提高公众和从业者的基因组学素养,促进个人和人群的口腔健康,以及减少差异。

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