News

Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey

“Earlier, faster and more accurate diagnosis” We are delighted to share the results of the the recent Rare Barometer survey, developed by the IRDiRC PACC member organization EURORDIS-Rare Diseases Europe, which shows that the average rare disease patient in Europe waits nearly five years for a diagnosis. Check out more details about this survey’s findings […]

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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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RD Moonshot – Research Needs Recommendations

Despite advancements, most rare diseases lack effective therapies, underscoring the necessity for a strategic overhaul in the approach to research and development. To address the multifaceted challenges in rare disease research, a unified framework that encompasses the recommendations across clinical trials, diagnostics, and translational research is proposed by the Rare Disease Moonshot. Central to this […]

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Global health for rare diseases through primary care

A new IRDiRC paper on “Global health for rare diseases through primary care”, the work of the IRDiRC Primary Care Task Force, is now available open access in the The Lancet Global Health: https://lnkd.in/e_6_Rczr. The Task Force brought together a multi-stakeholder group of experts to assess the priority research areas in primary care. “Family medicine […]

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New Publication: Addressing Diagnostic Gaps and Priorities of the Global Rare Diseases Community: Recommendations from the IRDiRC Diagnostics Scientific Committee

A new paper developed by the IRDiRC Diagnostics Scientific Committee on “Addressing Diagnostic Gaps and Priorities of the Global Rare Diseases Community: Recommendations from the IRDiRC Diagnostics Scientific Committee”, has been recently published in the European Journal of Medical Genetics, as part of the Special Edition on “Globally Trending Topics in Rare Diseases”, having as […]

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