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Special issue: Newborn screening research.

Amy Brower1, Kee Chan1

  • 1American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|October 10, 2022
PubMed
Summary

Newborn screening research advances with new technologies for diagnosing and treating infants. This special issue highlights innovations in screening more conditions and improving data sharing for better infant health outcomes.

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Area of Science:

  • Medical Research
  • Genetics
  • Public Health

Background:

  • The Newborn Screening Translational Research Network (NBSTRN) has supported newborn screening (NBS) research for 14 years.
  • NBSTRN provides infrastructure to advance NBS research, including novel screening, diagnostic, and treatment technologies.
  • The NBS community and its networks collaborate to drive innovation.

Purpose of the Study:

  • To provide a comprehensive update on current NBS research.
  • To showcase innovative efforts to expand NBS.
  • To highlight advancements in genomics and information sharing within NBS.

Main Methods:

  • This Special Issue compiles research findings and insights from the NBS community.
  • It reflects collaborations facilitated by NBSTRN.
  • The content focuses on translational research efforts.

Main Results:

  • Authors share innovative approaches to NBS.
  • Advancements include screening for additional conditions and diverse populations.
  • Progress is reported in integrating genomics and enhancing information sharing.

Conclusions:

  • The Special Issue demonstrates significant progress in NBS research.
  • Continued collaboration and infrastructure support are vital for advancing NBS.
  • Innovations aim to improve early detection and treatment for newborns.