Lysosomal storage disorders (LSDs) are a group of more than 50 inherited metabolic disorders where enzyme deficiency inhibits the ability of the lysosomes present in each of the body’s cells to function normally. Recent discoveries of new therapies coupled with novel screening methods has led to the adoption of newborn screening for several LSDs around…
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SMA is a leading genetic cause of death in infants and toddlers. Two years ago, newborn screening for SMA was recommended in the United States and today over half of states have adopted screening. The federal committee that recommended screening estimated that screening could prevent about 50 infants from needing a ventilator and about 30…
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Join NBSTRN September 8-10, 2020, from 9 AM to Noon PST, for the three-day NBSTRN Newborn Screening Virtual Summit. This summit offer participants the opportunity to learn the latest newborn screening research from leading experts, state programs, industry, and parent advocates; connect and expand their research networks; and support newborn screening programs. Register today. Registration…
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Monday, June 29, 2020 | 3:00–4:00 pm ET Dr. Amy Brower, Co-Principal Investigator of the Newborn Screening Translational Screening Research Network (NBSTRN) and Alissa Huston, from the SCID Compass Program of Immune Deficiency Foundation (IDF) will talk about resources developed by the SCID Compass Program as well as an overview of updates to the…
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Why is NBS data so crucial to the health and wellbeing of newborns? In the past, interventions used to treat many NBS conditions were chosen based solely upon the experiences of the medical professional(s) overseeing the patient. Without protocols based on clinical evidence, clinicians caring for patients with inborn errors of metabolism (IBEM), such as…
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More than two decades ago, dramatic efforts were begun to improve the Newborn Screening programs. With the development of new technologies, clinicians were able to begin screening for multiple disorders using a single platform. Challenges, nonetheless, still existed. One cannot characterize the full range of disease expression or discover genetic and environmental modifiers without the…
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Newborn screening for over sixty conditions in the United States enables early identification and treatment of infants with rare genetic disease. Two of the conditions are screened using physiological tests in the newborn nursery, while the remaining conditions are detected from a blood sample collected on filter paper. Over 50% of states retain these samples…
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Are you a parent who want to learn more about newborn screening program? Are you a clinician who want to connect with researchers working in newborn screening? Are you a researcher who want to expand your network? Join the Newborn Screening Translational Research Network (NBSTRN) at www.nbstrn.org. Dr. Amy Brower, the Co-Principal Investigator for NBSTRN…
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Dr. Amy Brower shares details of the development of newborn screening “Translational research efforts are key to insuring the best outcome for all newborns”.
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