Latest news

Jun 2, 2023

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England

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.

Apr 3, 2023

Consensus for SMN2 genetic analysis in SMA patients at 270th ENMC International Workshop

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.

Jan 20, 2023

EURORDIS Rare On Air Podcast: Newborn screening is key to longer, healthier lives

Listen to the latest episode of EURORDIS’ new podcast on newborn screening featuring Kirsten Johnson, chair of both the Fragile X Society in the UK and Fragile X International, and Gulcin Gumus, Research and Policy Project Manager at EURORDIS.

Dec 16, 2022

Newborn screening toolkit for patient advocacy groups

Listen to the webinar SMA Europe organised on the new NBS patient advocacy toolkit.