IRDiRC’s Diagnostic Scientific Committee (DSC) plays a critical role in identifying and addressing current and future bottlenecks to rare disease gene discovery and diagnosis. As we work towards improving rare disease diagnosis globally, the DSC is currently seeking to expand its membership by welcoming a rare disease diagnostic expert from Africa or Latin America and a […]
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We empowered a community that deserves to be heard. #RAREvolution Berlin, Germany – 24 March 2023. The seventh edition of the RE(ACT) Congress and the fifth edition of the IRDiRC Conference were held jointly in-person in Berlin (Germany) from 15-18 March 2023. The event was organized by the BLACKSWAN Foundation in collaboration with the International […]
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AFM-Telethon is pleased to announce the launch of its first international call for proposals for Translational Research Projects on « A single therapeutic product for several mitochondrial disorders ». The MitoNice Congress, organized in September 2022 by the AFM-Telethon along with the 7 th International Myology Congress, highlighted that mitochondrial medicine has moved from the […]
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In the context of the IRDiRC Interview Series, Marjon Pasmooij’s interview is now available. Marjon is a member of IRDiRC’s Therapies Scientific Committee and Science Programme Manager at Medicines Evaluation Board (CBG/MEB), University Medical Center Groningen, The Netherlands. Watch the full interview here
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IRDiRC has four Scientific Committees, one each for Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare diseases research. 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 […]
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The registration for the Third International Summit on Human Genome Editing is now open. The event will take place on 6-8 March 2023 at the Francis Crick Institute, London UK. Register for free here The Third International Summit on Human Genome Editing will take place on 6-8 March 2023 at the Francis Crick Institute, London […]
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In addition to the Orphan Products Grants Program that the Office of Orphan Products Development (OOPD) currently administers, a new grant program was established this year by the Accelerating Access to Critical Therapies for Amyotrophic Lateral Sclerosis Act (ACT for ALS) named the FDA Rare Neurodegenerative Disease Grant Program. This new program will be administered […]
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IRDiRC is glad to partner with Alexion’s annual Rare Conversations conference, “Rare Disease Policies: Pioneering the way towards a resilient ecosystem”, that we will partner. The event will reflect on several aspects that may be included in the new legislative framework, trying to answer the question: How to create a resilient rare disease ecosystem for the […]
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In the context of the IRDiRC Interview Series, Funders Constituent Committee member and Fondazione Telethon’s Head of Affairs Stefano Benvenuti’s interview is now available. “IRDiRC is a great opportunity for knowing more and doing your job better” says Stefano Benvenuti. Watch the full interview here
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22 September 2022 – Paris, France – IRDiRC, a global collaborative initiative with the vision to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention, today announced the formation of the Regulatory Science Committee (RSC). “IRDiRC recognizes that the fast-moving pace […]
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