Today we celebrate International Neonatal Screening Day! 😊

Check out the latest publication on #newbornscreening issued by RARE Revolution Magazine. Our Steering Committee member Kacper Rucinski, co-founder of SMA Foundation Poland, speaks about the challenges of ensuring Europe-wide newborn screening for SMA.

The analysis assessing the cost-effectiveness of newborn screening for SMA in England by Novartis has been published online in Neurology and Therapy . The publication might be useful especially for countries where newborn screening is not yet implemented. For further information please look here.

At the 270th ENMC International Workshop, which took place from 10 – 12th of March 2023 in the Netherlands, participants agreed to determine a standard operating procedure for SMN2 gene copy number determination and a specific workflow for diagnosis and management of SMA patients identified in neonatal screening as well as to engage collaborative efforts for the creation of a European network to address discrepancies among expert centres.