We are pleased to share a new publication produced by the IRDiRC Functional Analysis Task Force, highlighting the growing impact of multi-omics in advancing rare disease research and precision medicine. Multi-omics, combined with advanced computational methodologies, integrates diverse omics datasets to deliver deeper insights into molecular interactions. This powerful approach has transformative potential for unraveling […]
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We are pleased to announce a new IRDiRC publication, “Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews”, produced by the IRDiRC’s Enabling and Enhancing Telehealth for Rare Diseases Across the Globe Task Force, which explores how telehealth (TH) can transform diagnosis, care, research, […]
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IRDiRC announces publication of a new manuscript, developed as part of the International Rare Disease Research Consortium (IRDiRC) N-of-1 Task Force: “Applying the IRDiRC N-of-1 Therapy Task Force Eligibility Criteria for Individualised Therapies – Use Case: Duchenne Muscular Dystrophy“. Nucleic acid-based therapies, including antisense oligonucleotides (ASOs), are opening new doors for the treatment of rare diseases. With over […]
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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 latest IRDiRC paper, “Drug Repurposing for Rare: Progress and Opportunities for the Rare Disease Community” has been published in Frontiers in Medicine. The paper is available here. This open-access publication, reflecting the collaborative efforts of the IRDiRC Drug Repurposing Task Force and the IRDiRC Therapies Scientific Committee over the past 1.5 years, is a […]
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New Publication: Making Rare Disease Research Attractive to Companies by IRDiRC Chrysalis Task Force
Accessible at https://doi.org/10.1177/26330040231188979, the Chrysalis Task Force identified key financial and non-financial factors that make rare disease research and development attractive to companies. More information on the Chrysalis Task Force here: https://irdirc.org/chrysalis-project/ « It was a real pleasure working with such a talented IRDiRC Task Force. We also truly appreciate the critical input provided by the […]
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