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加快新生儿筛查研究步伐以增进疾病认识并改善健康结局:新生儿筛查转化研究网络(NBSTRN)的关键举措

Accelerating the Pace of Newborn Screening Research to Advance Disease Understanding and Improve Health Outcomes:: Key Efforts of the Newborn Screening Translational Research Network (NBSTRN).

作者信息

Brower Amy, Chan Kee, Taylor Jennifer, Wiebenga Ross, Tona Galata, Unnikumaran Yekaterina, Barnes LaStephanie

机构信息

American College of Medical Genetics and Genomics (ACMG).

出版信息

Dela J Public Health. 2021 Dec 15;7(5):36-37. doi: 10.32481/djph.2021.12.010. eCollection 2021 Dec.

Abstract

Each year in the United States, neonatal screening leads to approximately 1 in 220 newborns being identified with a condition that requires treatment, and in some cases, life-saving interventions. Research that discovers new technologies to screen, diagnose, and treat diseases helps to expand the number of conditions that are candidates for nationwide screening. The National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Research Program funds research to advance newborn screening (NBS). A key effort is the Newborn Screening Translational Research Network (NBSTRN). For fourteen years, the American College of Medical Genetics and Genomics (ACMG) has developed and coordinated the activities of the NBSTRN. This article provides an overview of the NBSTRN.

摘要

在美国,每年新生儿筛查会使约每220名新生儿中就有1名被确诊患有需要治疗的疾病,在某些情况下,还需要进行挽救生命的干预措施。发现用于筛查、诊断和治疗疾病的新技术的研究,有助于增加可作为全国性筛查对象的疾病数量。美国国立儿童健康与人类发展研究所(NICHD)的亨特·凯利新生儿筛查研究项目资助相关研究以推进新生儿筛查(NBS)。一项关键举措是新生儿筛查转化研究网络(NBSTRN)。十四年来,美国医学遗传学与基因组学学会(ACMG)一直在开展并协调NBSTRN的活动。本文对NBSTRN进行概述。

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