image: List of Speakers and their topics at the 2023 NBSTRN Network Meeting view more
Credit: Image created by Yekaterina Unnikumaran, MS, M. Ed
In 2023, the newborn screening (NBS) community of researchers, healthcare professionals, parents, families, advocates, and state newborn screening programs are celebrating the 60th anniversary of NBS. On May 18-19, 2023, the Newborn Screening Translational Research Network (NBSTRN) is marking this significant milestone with a two-day virtual meeting that will showcase the important role of advocacy and research in NBS. In 1963 Dr. Robert Guthrie’s discovery of a biomarker for phenylketonuria (PKU) that could be detected in a newborn’s blood ignited six decades of ground-breaking investigations by researchers have delivered new screening, diagnostic technologies and therapies that have expanded NBS to over 80 conditions. Advocacy from parents, families, and communities have collectively accelerated this expansion of NBS and continues to highlight important areas where the NBS community can work to ensure the timely diagnosis, treatment, and lifelong management of newborns identified with a condition through NBS. This year, the new American College of Medical Genetics and Genomics (ACMG) CEO Melanie Wells, MPH CAE will introduce the two-day meeting followed by a special guest, Patricia Guthrie, M.A., Dr. Robert Guthrie's daughter, who will kick-off the Network Meeting with a welcome message to the NBS community.
2023 also marks the 15th year of ACMG leading the NBSTRN. “Since 2008 the NBSTRN has facilitated ground-breaking research in NBS and facilitated the expansion of NBS and the translation of research into clinical practice and public health. We are excited to showcase these efforts in celebration of the 60th anniversary of newborn screening (NBS),“ said Amy Brower, PhD, the Principal Investigator of NBSTRN. Dr. Brower leads the NBSTRN team at ACMG with a mission to facilitate the discovery and validation of novel technologies to screen and diagnose disease, pilot new technologies and treatments, describe the ethical, legal, and social implications of NBS research, and collect longitudinal health and genomic data. By joining the NBSTRN network, the ACMG community can help build new connections and strengthen partnerships across government, academia, clinical care, public health, and industry; support collection, analysis, storage, and sharing of phenotypic and genomic data; guide newborn screening research studies and pilot studies; and support the validation of new technologies and treatments for newborn screening. Kee Chan, PhD, MBA Scientific Strategy Manager of NBSTRN, noted that these events showcase the collaborative network ACMG has built for the NBSTRN.
“At this year 2023 Network Meeting, we are thrilled to have a fantastic line-up of topics that highlights the hard work of advocacy groups, researchers, and health professionals in saving and improving the lives of babies. It will be very inspiring to hear their stories,” shared by Dr.Chan.
The speakers and topics are listed below:
Thursday May 18, 2023
- Elizabeth Reynolds, PhD from Research Triangle Institute (RTI) will present “Linkages Between Early Intervention and Newborn Screening”
- Tiina Urv, PhD from National Center for Advancing Translational Sciences (NCATS) will present “Rare Disease Research at NCATS”
- Jeffrey Brosco, MD, PhD from Health Resources and Services Administration (HRSA) will present "The Past and the Promise of Newborn Screening"
- Alyson Berent, DVM, DACVIM from Foundation for Angelman Syndrome Therapeutics will present “The Impact Families Can Have On Developing Meaningful Treatments For Angelman Syndrome: Making the Impossible Possible”
Friday, May 19, 2023
- Vinod K. Bhutani MD, FAAP, Keely Harris, Niloofer Darbary from The g6pd Deficiency Foundation will present “The Importance of Creating a Hybrid Organization to Serve Both the G6PD Deficient Population and the G6PDd Medical Community for Newborn Screening”
- Jerry Vockley, MD, PhD from University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh will present “The Evolving Role of Medical Genetics in the Era of Gene Therapy: An Urgency to Prepare”
- Robert Green, MD, MPH from Harvard Medical School will present “The Path to Universal Newborn Sequencing”
- Lynn Bush, PhD, MS, MA from Pediatrics Genetics and Genomics, Boston Children's Hospital and Pediatrics Harvard Medical School and HMS Center for Bioethics and Genetics Training Program will present “The Diagnostic Odyssey Continuum: Translations in Newborn Screening”
Join us as we celebrate these important milestones and highlight the role of advocacy and research. Join us for this celebratory event: https://nbstrn.org/2023-network-meeting