1. Newborn Screening Translational Research Network Goals of the Hunter Kelly Newborn Screening Program Identify, develop and test the most promising technologies Increase the specificity of newborn screening and expand the number of conditions for which screening tests are available Develop experimental treatments and disease management strategies for additional newborn screening conditions, and other genetic, metabolic, hormonal and or functional conditions that can be detected through newborn screening for which treatment is not yet available

2. Newborn Screening Translational Research Network The NBSTRN is an NICHD funded contract awarded to ACMG (September 2013 - September 2018) Mike Watson, PhD, MS – Principle Investigator The NBSTRN will develop, maintain, administer and enhance resources to support investigators with projects related to newborn screening for: –New technologies –New Conditions –New treatments and management approaches NBSTRN

3. Newborn Screening Translational Research Network Key Areas of Focus AreaDeliverable VRDBS Maintain, administer and enhance reliable virtual repository of dried bloodspots R4S Maintain, administer and enhance a laboratory performance database LPDR Maintain and enhance a network of centralized and institutionally-enabled infrastructure to support the capture and managed storage of longitudinal clinical data from individuals following newborn screening LPDR-DW Maintain a data repository that securely houses long-term follow-up genomic data, materials metadata and key phenotypic data for subjects followed within the long-term follow-up dataset Bioethics Establish, maintain and administer a web based interactive resource related to the ethical, legal and social issues relevant to newborn screening investigators CDEs Facilitate…the development and use of common data elements and standardized language for newborn screening disorders and disorders that may benefit in the future from newborn screening Disseminate Facilitate the timely dissemination of research findings to: relevant research communities, relevant clinical communities, state newborn screening programs Steering Establish twelve member Steering Committee that will serve in an advisory capacity

4. Newborn Screening Translational Research Network The ELSI Advantage is an ethical, legal and social issues resource for NBS researchers. Information on IRB's, NBS related FAQ's, and templates to customize your own Consent Forms are available in this resource. If additional ELSI related questions arise, just ask ELSA, the NBSTRN’s very own interactive avatar! NBSTRN Tools The Virtual Repository of Dried Blood Spots (VRDBS) is an open-source, web-based tool that enables NBS researchers to search over 2.9 million DBS from participating states. VRDBS The Region 4 Stork tool is a web-based application for the collection and reporting of analytical results. It has been widely adopted into the routine practice of newborn screening laboratories worldwide. LPDR The Longitudinal Pediatric Data Resource (LPDR) is a secure informatics system designed to enable enhanced data collection, sharing, management and analysis for conditions identified as part of newborn screening or for conditions that may benefit from newborn screening. R4S ELSI Advantage

5. Newborn Screening Translational Research Network Acknowledgements 5 Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health NBSTRN -HHSN27520130001C