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.
News
Newborn screening toolkit for patient advocacy groups
Listen to the webinar SMA Europe organised on the new NBS patient advocacy toolkit Download the toolkit
SMA NBS Alliance Annual Report 2022
Published 15 December 2022 Overall situation SMA NBS progress and status in 2022 For sources on these updates, please visit and select the country: https://www.sma-screening-alliance.org/map/ As newborn screening for SMA is evolving quickly in 2022, if you have an update or correction, you can share it with the Alliance via the Secretariat at: [email protected] SMA […]
Newborn screening for SMA in Romania event
The Romanian Association SMACARE in partnership with SMA Europe and the European Alliance for SMA NBS is organizing an event on 25 November in Bucharest, Romania at the Crowne Plaza Hotel Bucharest. The event’s purpose is to discuss newborn screening implementation in Romania at the national level, to understand how NBS is implemented in other […]
Positive developments for SMA newborn screening in Spain and Denmark
On September 15, 2022, the regional government of Galicia, Spain announced they would add three new diseases to the regional screening programme, including SMA, and begin screening for SMA by the end of 2022. Galicia has one of the most comprehensive newborn screening programmes in Spain. There are currently three ongoing pilots for SMA newborn […]
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands
Read the new article published in August 2022, written in part by SMA NBS Alliance members from the University of Groningen and Novartis Gene Therapies, about the cost-effectiveness of newborn screening for SMA in the Netherlands. The researchers found that NBS for early identification and treatment of SMA versus later symptomatic treatment after clinical diagnosis […]
Launch of the UK SMA NBS Alliance website
UK SMA Newborn Screening Alliance has launched its website and social media channels to update the Community with progress towards newborn screening. Find out more about the Alliance – check out their website and follow them on social media for all the latest updates: Facebook: @UKSMAnewbornscreeningalliance Twitter: @SMA_NBSalliance Instagram: @UKSMA_NBSAlliance Watch the video about the […]
Financial cost & QoL of patients with SMA identified by symptoms vs. newborn screening
Prof. Laurent Servais talks about the financial cost and quality of life of patients with SMA. He shows one family that had two children born with SMA, one was detected at birth through newborn screening and treated early, and the other child was diagnosed with SMA after symptoms already started. The positive outcomes of SMA […]
International Neonatal Screening Day
Today, June 28 2022 is International Neonatal Screening Day (INSD) “International Neonatal Screening Day (INSD) is an international initiative launched by the International Society for Neonatal Screening (ISNS), the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and the European Society for Immunodeficiencies (ESID), working in partnership under the multi-stakeholder Screen4Rare platform to promote the importance of […]
Newborn screening pilot studies for SMA starting in France
The AFM-Téléthon, the University Hospitals of Strasbourg, and the Center Hospitalier Universitaire de Bordeaux are launching a pilot project called DEPISMA for neonatal genetic screening for spinal muscular atrophy (SMA) in the Grand-Est and in Nouvelle-Aquitaine regions of France, in collaboration with the regional health agencies. The first babies to be screened for SMA will be […]
