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.