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Spinal muscular atrophy (SMA) is a rare, but treatable, genetic disease affecting approximately 1 in 10,000 births, and it typically presents in infancy and early childhood.

In the UK, every 5 days a baby is born with 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. We hope that it will pave the way for a national newborn screening that will save about 70 babies/year in the UK from disability

The study, designed by Prof. Laurent Servais and colleagues at the University of Oxford will be run by the STRONG research group in the Department of Paediatrics. For the first time, samples will delivered for DNA extraction and genetic testing at the NHS Oxford Regional Genetics Laboratories at the Churchill Hospital. The study is funded by Novartis Gene Therapies, Roche Products Ltd and Oxford Biomedical Research Centre.

 Prof. Manu Vatish commented "The University of Oxford and the John Radcliffe Hospital (OUH NHS FT) are excited to be part of this amazing study, designed to identify babies at risk of Spinal Muscular Atrophy from blood spots taken as part of routine Newborn Screening. We are delighted to be able to help Professor Laurent Servais identify these children so that they can receive treatment that should stop this terrible disease from progressing"

Read the full story on the Department of Paediatrics website

 

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