The Jack Bear Foundation, in partnership with the Orphan Disease Center, University of Pennsylvania, is now accepting applications for the 2025 Grant Program to support critical research on SCAR-15, a rare degenerative genetic disorder linked to mutations in the RUBCN gene. This grant will provide up to $100,000 for innovative research aimed at advancing our […]
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IRDiRC has four Scientific Committees. The Therapies Scientific Committee (TSC) is a multi-stakeholder, multi-disciplinary group of experts in medical research and therapy development in rare diseases. Specifically, the TSC is devoted to pursuing the therapeutic development of IRDiRC, supporting the rare diseases research community in achieving goal 2, “1000 new rare disease treatments by 2027.” […]
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An upcoming ISPOR Webinar will explore the challenges in evaluating rare, pediatric, degenerative diseases by sharing the example of Duchenne Muscular Dystrophy (DMD) as a case study. Experts will dive into the complexities of traditional HTA frameworks and share innovative insights on assessing orphan drugs. This is a unique opportunity to gain valuable knowledge and join the discussion on shaping the future […]
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The US National Institutes of Health (NIH) announces a new collaboratory research opportunity on Newborn Screening by Whole Genome Sequencing. Eligible organisations are invited to submit their application before Friday, April 4th, 2025, local time of applicant organisation. LOIs are required to submit a full application. With significant community involvement and input, this initiative will […]
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IRDiRC is proud to have gathered experts, researchers, patient advocates, and industry leaders at its annual 2-days Consortium Assembly – Scientific Committees Meeting on 3-4 March, 2025, in Brussels, Belgium. Key takeaways from the meeting: These two days have been a testament to the importance of collective action. By breaking silos and fostering international cooperation, […]
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For the Rare Disease Day 2025, the European Commission has prepared a social media campaign on X and Facebook running from 10 to 25 February highlighting rare diseases projects ERICA and Solve-RD. In addition, a new updated factsheet will be available starting 28th February, together with a new Carousel-visual “4 facts you should know about […]
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A Day to Raise Awareness & Drive Action Rare diseases affect over 300 million people worldwide, yet many patients still face delayed diagnoses, limited treatment options, and a lack of awareness. Rare Disease Day is a global movement that unites researchers, advocates, policy makers, and patients to push for progress. In 2025, initiatives across multiple continents are bringing […]
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Medicines Reimagined – The International Drug Repurposing Conference 2025 (#iDR25) hosted by REMEDi4ALL and Beacon aims to unlock the full potential of medicines by driving innovation for patient benefit. This global event will explore how cutting-edge artificial intelligence (AI) approaches are transforming drug discovery, alongside innovative business models and regulatory pathways for market access. It is a unique opportunity […]
Read MoreWe are excited to announce the launch of several newly approved Task Forces and Working Groups focused on advancing the field of rare diseases. These groups bring together leading experts from around the world to collaborate on critical issues in rare disease research and treatment. Learn more about each initiative below: 1. Facilitating the Development of […]
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Fondazione Telethon announced that it has submitted the Marketing Authorization Application (MAA) for the gene therapy – etuvetidigene autotemcel – for the treatment of patients with Wiskott-Aldrich Syndrome (WAS), a rare genetic disease of the immune system to the European Medicines Agency (EMA). If approved, etuvetidigene autotemcel will provide a valid treatment option, with excellent results in terms of both safety […]
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