NBSTRN
Join us
in advancing
newborn screening
For over fifty years ground-breaking investigations by NBS researchers have delivered new technologies and therapies that enable the early detection and treatment of disease. With this in mind, the fundamental objective of ACMG’s NBSTRN effort is the expansion, advancement, and refinement of the NBS system by supporting NBS related research.
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Here’s what we have to share with you
A central goal for NBSTRN is to foster collaboration between research teams, NBS programs, clinicians, patients, and families. NBSTRN houses millions of data points from ground-breaking studies available for data mining, visualization, and secondary research.
STUDIES
PARTICIPANTS
COHORTS
PHENOTYPIC DATA POINTS
GENOTYPIC DATA POINTS
TERABYTES OF DATA
A few things we’re great at
The NBSTRN builds tools and networks to help newborn screening researchers succeed.
The Longitudinal Pediatric Data Resource
Enables clinicians, researchers, parents and patients to enter health information in a secure, centralized system.
The NBS Research Repository
Supports the analytical and clinical validation of new technologies, tracks emerging findings from pilots and enables new knowledge discovery through secondary use of accumulated data.
ELSI Advantage
Highlights the ethical, legal, and social issues important in newborn screening
THE FUTURE
NBSTRN 2030
A Researcher Needs Workgroup was held on September 16-17, 2019 focused on the utilization of NBSTRN to advance the use of genomics in rare genetic disease diagnosis and treatment. Speakers included industry, academia, clinicians and researchers.
GOALS
Bring together partners to propel us forward to the next phase of comprehensive
rapid precision medicine for newborns and children.
VISION
Build a rapid precision medicine collaborative, an alliance of committed, like-minded stakeholders.
STUDIES
We anticipate the initial study will assess the diagnostic and clinical utility of whole genome sequencing, its ethical and legal implications, and its cost-effectiveness.
KNOWLEDGE
Development of a knowledgebase to be shared among scientists from industry, academia, and healthcare networks for facilitating the identification of new therapeutics for rare diseases
Latest News
Follow us for the latest in newborn screening research.
Fifty Years of Precision Medicine: Newborn Screening in the United States
Dr. Amy Brower shares details of the development of newborn screening “Translational research efforts are key to insuring the best outcome for all newborns”.
Read moreContact us
Whether you are a researcher interested in NBS, a clinician caring for individuals with a condition identified by NBS, a parent or family member caring for a child with a genetic condition, we welcome you to join the NBSTRN.
Funding
This project is funded in whole or in part with Federal funds from the NICHD, National Institute of Health, Department of Health and Human Services, under Contract No. HHSN275201800005C.