IRDiRC has four Scientific Committees, one each for Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare diseases research. The Diagnostic Scientific Committee (DSC) identifies current and future bottlenecks to rare disease gene discovery, addresses challenges and roadblocks in rare disease diagnosis, and collaborates with international partners to develop tools and resources to facilitate genomic data discovery, analyses […]
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PARIS, FRANCE, JULY 5th, 2022: The International Rare Diseases Research Consortium (IRDiRC) is pleased to announce today the release of its Rare Diseases Research Initiatives State of Play 2019-2021 Report. This report is based on scientific articles and press releases published between 2019 and 2021; it seeks to inform stakeholders and the rare diseases community […]
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The National Institute of Neurological Disorders and Stroke (NINDS) recently created the Ultra-Rare Gene-Based Therapy (URGenT) Network. The URGenT Network supports the development of state-of-the-art gene-based therapies for ultra-rare neurological diseases, which affect as few or fewer than one in fifty thousand people. It supports Investigational New Drug (IND)-enabling studies and planning activities for First-in-Human (FIH) […]
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Rare Diseases International (RDI) would like to thank all who attended the RDI Informal Side-Event to the 75th World Health Assembly, which took place in Geneva, Switzerland, on May 24th, 2022. The event was opened by the World Health Organization and discussed how health systems around the world would be strengthened by the development of a Global Network for […]
Read MoreIRDiRC is pleased to announce that the recommendations from the Working Group on Goal 3: Developing methodologies to assess the impact of diagnoses and therapies on rare disease patients have been published in the Orphanet Journal of Rare Diseases. Access the article here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02337-2 The Working Group characterized a set of metrics, tools and needs required […]
Read MoreIRDiRC is pleased to announce that the next edition of the 5th IRDiRC Conference and 7th RE(ACT) Congress will be held in person in Berlin, Germany from March 15th – 18th, 2023. The joint event “IRDiRC Conference and RE(ACT) Congress 2023” aims to bring together scientific leaders, experts and young scientists from various breakthrough scientific fields to present cutting-edge research, exchange ideas, and […]
Read MoreRare Diseases International (RDI) is partnering with the EURORDIS Rare Barometer Survey project to launch the Global Survey on the Journey to Diagnosis for Persons Living with a Rare Disease. This survey aims to identify factors that influence the process of obtaining a diagnosis and obstacles along the journey. This is a global survey, available […]
Read MoreThe National Institutes of Health (NIH), National Center for Advancing Translational Sciences (NCATS) and the U.S. Food and Drug Administration (FDA), Center for Drug Evaluation and Research (CDER) are hosting a jointly sponsored virtual workshop to explore Regulatory Fitness in Rare Disease Clinical Trials. The
Read MoreThe National Institutes of Health (NIH), National Center for Advancing Translational Sciences (NCATS) and the U.S. Food and Drug Administration (FDA), Center for Drug Evaluation and Research (CDER) are hosting a jointly sponsored virtual workshop to explore Regulatory Fitness in Rare Disease Clinical Trials. The virtual workshop will take place over two days on May 16th – 17th. Academic investigators, patient groups, and small or emerging pharmaceutical and biotechnology […]
Read MoreRare Diseases South Africa (RDSA) has a vision to see a South Africa where those impacted by rare diseases and congenital disorders have access to life-saving therapies and support for an improved quality of life. One of the actions which will allow that is a validated patient registry that is confidential and secure and that […]
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