特刊：新生儿筛查研究。

Special issue: Newborn screening research.

机构信息

American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.

出版信息

Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):135-137. doi: 10.1002/ajmg.c.32007. Epub 2022 Oct 10.

DOI:10.1002/ajmg.c.32007

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9828114/

Abstract

This Special Issue provides a wide-ranging update from the front lines of newborn screening (NBS) research and is the result of conversations and collaborations facilitated by the Newborn Screening Translational Research Network (NBSTRN) across the NBS community and their extended networks. For 14 years NBSTRN has accelerated research efforts to advance NBS by creating a research infrastructure available to the NBS community to discover novel technologies to screen, diagnose, and treat newborns.Authors in this Special issues share their innovative and impactful efforts to advance NBS to include additional conditions, populations, genomics, and information sharing.

摘要

本特刊从新生儿筛查（NBS）研究的第一线提供了广泛的最新信息，是新生儿筛查转化研究网络（NBSTRN）在 NBS 社区及其扩展网络中促进对话和合作的结果。14 年来，NBSTRN 通过创建一个可供 NBS 社区使用的研究基础设施，来发现筛查、诊断和治疗新生儿的新技术，从而加速了研究工作，以推进 NBS。本特刊的作者分享了他们在推进 NBS 方面的创新和有影响力的努力，包括增加新的条件、人群、基因组学和信息共享。

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