NBSTRN is attending the APHL 2019 Newborn Screening and Genetic Testing Symposium in Chicago, IL from April 7th to 10th. Our team is participating in a variety of sessions to communicate NBSTRN efforts and expand our network.
Dr. Amy Brower is a moderator for the Public Health Newborn Screening Long Term Follow-Up Opportunities and Challenges Roundtable. This session will discuss challenges to conducting long term follow-up in newborn screening programs and identify potential solutions. Finding ways for the state NBS programs to contribute data to the NBSTRN’s Pediatric Data Resource (LPDR) will advance understanding of the number of newborns diagnosed with a rare disease through NBS each year.
The NBSTRN team is contributing to an effort to pilot NBS for Duchenne Muscular Dystrophy and related neuromuscular disorders. Dr. Michele Puryear is presenting a poster describing the unique structure of the Duchenne Newborn Screening Consortium. This consortium leverages the tools and expertise developed by NBSTRN and serves as a model for future efforts. Please message us if you would like a copy of the poster (firstname.lastname@example.org).
Dr. Amy Brower is presenting an overview of a new tool, the NBSTRN’s DMDNBS Cloud. This tool is designed to provide a centralized online environment for researchers, clinicians and parents to contribute and analyze pilot data. Our goal is to establish the evidence base for a nomination of DMD to nationwide screening.