Special issue: Newborn screening research

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

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Genomics
  • Humans
  • Infant, Newborn
  • Neonatal Screening*
  • Translational Research, Biomedical*