Tag: sma

Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy case study

A new publication about incorporating Spinal Muscular Atrophy (SMA) in newborn screening programs across Europe is now available in the Rare Disease and Orphan Drugs Journal. The paper highlights how patient advocacy organizations represent a key partner in ensuring equitable and early diagnosis. 📖 Read the full publication here: https://lnkd.in/emYepUDX📚 More publications on Newborn Screening: […]

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RARE ON AIR – Ayça Şahin’s story

Listen now to EURORDIS RARE ON AIR latest episode, where Julien Poulain (Communication Manager at EURORDIS) speaks with Ayça Şahin, a PhD student in neuroscience living in Turkey with Spinal Muscular Atrophy (SMA), who shares her and her brother’s journey to receiving an SMA diagnosis. Ayça highlights the critical importance of early and accurate diagnoses […]

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