We proudly announce two ground-breaking publications that help pave the way for the future of research data sharing and information governance 1) Getting your DUCs in a row – standardising the representation of Digital Use Conditionshttps://www.nature.com/articles/s41597-024-03280-6 This publication reports a robust, standard data structure that addresses the complex challenge of responsibly sharing research data, healthcare […]
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A new network of Western Australian and international rare disease experts is being formed to develop precision medicines for the trickiest – and sometimes undiagnosed – cases across our hospital system. Affecting around 500,000 children in Australia, rare diseases are the biggest killer of children in developed countries with 95% of the approximately 7,000 known rare […]
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The International Rare Diseases Research Consortium’s (IRDiRC) Regulatory Scientific Committee (RSC) has two openings for new members who are from the following regions: Africa, Australasia or South America. Apply before April 30, 2024. IRDiRC has 4 Scientific Committees, one each for the Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare diseases research. The Regulatory Scientific […]
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The Rare Disease Moonshot coalition encourages the rare disease research community to seize the opportunity presented by the Innovative Health Initiative’s call for proposal on Biomarkers, in alignment with the Research Needs Recommendations on Diagnosis In line with its mission of facilitating public private collaborations to address rare disease research “white spots”, the members of […]
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IRDiRC has just announced the launch of the latest publication titled “Advancing Diagnosis and Research for Rare Genetic Diseases in Indigenous Peoples” now available on nature.com.Read the publication here: https://www.nature.com/articles/s41588-023-01642-1“The Indigenous populations taskforce brought together Indigenous and non-Indigenous rare disease leaders from across the globe to tackle the inequity in rare diseases diagnosis. The outputs […]
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The Interdisciplinary Scientific Committee (ISC) would like to broaden the committee membership. As such, the ISC has four openings for new members, specifically encouraging participants from the following regions: Middle East, Africa, North & South America. Applications from other areas will also be considered depending on the expertise. We are looking for rare disease experts with different backgrounds: Phenotyping, Ontology […]
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Join us in spreading awareness this Rare Disease Day.The International Rare Diseases Research Consortium (IRDiRC) is bringing together the efforts of member organizations. Check out this collaborative post showcasing their impactful contributions towards rare disease research this Rare Disease Day. Alexion AstraZeneca Rare Disease This year, to celebrate the Rare Disease Day, Alexion is hosting […]
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Today, 28th of February, Fondazione Telethon (Italy) launched a Press Release to announce the agreement between Fondazione Telethon and Orchard Therapeutics, under which the foundation will work to make gene therapy for Wiskott-Aldrich syndrome available to patients. Read the Press Release here: https://www.telethon.it/en/stories-and-news/news/from-telethon-foundation/fondazione-telethon-announces-commitment-to-make-gene-therapy-for-wiskott-aldrich-syndrome-available-to-patients
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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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