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

March 18, 2022

Oxford University is initiating a population-based newborn screening study in the Thames Valley. 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. Screening will be done through the routine UK newborn blood spot screening pathway, using spare capacity from a newborns’ Guthrie card (dried blood spot sample). Screening will be done through the routine UK newborn blood spot screening pathway, using spare capacity from a newborns’ Guthrie card (dried blood spot sample). 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 source of this news is from University of Oxford