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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The European Commission has published a new Guidance on clinical evaluation of orphan medical devices on June 26th. Orphan devices are medical devices or their accessories, which are intended to be used for diseases or conditions affecting only a small number of individuals each year. Often, they are used to treat a rare disease or medical […]
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IRDiRC announces the launch of a new paper on “Newborn screening in Mexico and Latin America: present and future”, part of the Newborn Screening Initiative Real-World Applications and Technologies special edition, now fully available in the Rare Disease and Orphan Drugs Journal. “The first newborn screening program (NBS) to be implemented in Latin America was […]
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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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The Food and Drug Administration’s (FDA) Office of Orphan Products Development (OOPD) is pleased to announce availability of funds for fiscal year (FY) 2025 to support clinical trials for rare diseases and conditions. The purpose of this funding opportunity announcement is to fund clinical trials of products evaluating efficacy and/or safety in support of a […]
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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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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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The European Joint Programme on Rare Diseases is organizing and End-User Training intended for potential users of the Virtual Platform (VP) that is developed in the context of the EJP RD Pillar2 activities. At the end of this webinar, you will be able to: Describe how to interact with the Virtual Platform as a […]
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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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We are delighted to join the ICMRA ‘Rare’ Symposium and Workshop 2024, a multi-stakeholder event focusing on rare diseases organized by the International Coalition of Medicines Regulatory Authorities (ICMRA) and hosted by Swissmedic. This exclusive symposium is open to selected stakeholder organizations and regulators, providing a unique platform to discuss and address the pressing challenges […]
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