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  • First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford – University of Oxford

First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford – University of Oxford

Tuesday, 15 March, 2022

First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford – University of Oxford


In the UK, every five days a baby is born with spinal muscular atrophy (SMA). Treatments are available now. If these treatments are delivered at birth, these newborns have the best chance of living long and healthy lives. If treated later, when they are identified because of the symptoms, they may survive, but with a severe disability. So, for every 5 days that a newborn screening is delayed, a baby in the UK loses the chance of a brighter future.
Oxford University is initiating a population-based newborn screening study in the Thames Valley. This study aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity. It is hoped that it will pave the way for a national newborn screening that will save about 70 babies each year in the UK from disability.
Read more at: https://www.ox.ac.uk/news/2022-03-11-first-uk-pilot-study-newborn-screening-spinal-muscular-atrophy-launched-oxford

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