The FDA’s Office of Orphan Products Development (OOPD) is excited to announce a funding opportunity for fiscal year 2026 aimed at advancing natural history studies in rare diseases and conditions: “Clinical Studies of Orphan Products Addressing Unmet Needs of Rare Diseases (R01)” (https://grants.nih.gov/grants/guide/rfa-files/RFA-FD-25-020.html). Receipt Date: October 21, 2025 FOA Number: RFA-FD-25-020 The purpose of this […]
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Global Genes, IRDiRC Patient Advocacy Constituent Committee member organizes its 2025 RARE Drug Development Symposium, being held on 3-4 September, 2025 in Boston (MA, USA). This hands-on, expert-led event is designed to help rare disease advocates build expertise, connect with leading therapy developers and researchers, and confidently navigate the drug development process. Whether you’re initiating […]
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The Wiedemann-Steiner Syndrome Foundation, in partnership with the Orphan Disease Center University of Pennsylvania, is proud to announce three new 2-year research grants to support scientific advancement in Wiedemann-Steiner Syndrome (WSS). WSS is a rare genetic disorder caused by mutations in the KMT2A (MLL) gene, impacting gene expression and leading to significant cognitive and behavioral […]
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IRDiRC Diagnostic Scientific Committee (DSC) unites clinicians and specialists in genetics, genomics, bioinformatics, molecular diagnostics, and biochemistry to help reduce the diagnostic odyssey for the patients living with rare diseases. DSC plays a key role in identifying the barriers related to gene discovery and diagnosis and actively works to overcome these challenges by developing strategies to […]
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The World Orphan Drug Congress Europe is the largest and most established event globally for orphan drugs and rare diseases. With over 150 speakers already confirmed, WODC Europe connects global experts, industry leaders in the orphan drug space, and patient advocates, that drive transformative change in the rare diseases ecosystem. We are pleased to announce […]
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IRDiRC is proud to announce the publication of the latest article in Therapeutic Advances in Rare Disease: “From Roadmap to a Sustainable End-to-End Individualized Therapy Pathway.” This publication builds on the foundational work of the IRDiRC N-of-1 Task Force, expanding from the initial roadmap to explore how N-of-1 therapies—custom treatments for individuals with ultra-rare genetic conditions—can […]
Read MoreIRDiRC has four Scientific Committees: Diagnostics, Therapies, Interdisciplinary, Regulatory. The Interdisciplinary Scientific Committee (ISC) is a multi-stakeholder, multi-disciplinary group of experts working on rare disease (RD) data sharing, ontologies, natural history, biobanks, registries, ethical and societal aspects of rare diseases. ISC would like to broaden the committee membership, to represent the worldwide rare diseases community in its […]
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IRDiRC was represented at the International Conference of China by Dr. David Pearce, IRDiRC Chair, and Dr. Gareth Baynam (Interdisciplinary Scientific Committee Chair). The meeting was organized by CHARD, and took place on 23-25 May in Haikou, China. Dr. Pearce gave a talk on the “Changing landscape of rare and undiagnosed diseases: More diagnostics and […]
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On the 25th of April, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) gave givinostat (Duvyzat), a novel histone deacetylase (HDAC) inhibitor, a positive opinion. The recommendation is for granting a conditional marketing authorisation for givinostat for the treatment of ambulant patients with Duchenne Muscular Dystrophy (DMD) aged six […]
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Commissioned by the French Ministry of Higher Education and Research, ANR (Agence nationale de la recherche) will launch a specific call for research projects on Charcot disease, also known as Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease caused by the progressive degeneration of the central and peripheral motor neurons in the brainstem and spinal cord. […]
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