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Research on rare diseases: ten years of progress and challenges at IRDiRC

The International Rare Diseases Research Consortium (IRDiRC) is a global collaborative initiative launched in 2011, aimed at tackling rare diseases through research. Here, we summarize IRDiRC’s vision and goals and highlight achievements and prospects after its first decade.
  1. Lucia Monaco

    1. Fondazione Telethon, Milan, Italy.

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  2. Galliano Zanello

    1. Institut National de la Santé et de la Recherche Médicale, Paris, France.

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  3. Gareth Baynam

    1. Department of Health, Western Australia, Perth, Australia.

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  4. Anneliene H. Jonker

    1. University of Twente, Enschede, The Netherlands.

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  5. Daria Julkowska

    1. Institut National de la Santé et de la Recherche Médicale, Paris, France.

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  6. Adam L. Hartman

    1. National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

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  7. Daniel O’Connor

    1. Medicines and Healthcare products Regulatory Agency, London, UK.

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  8. Chiuhui Mary Wang

    1. Fondazione Telethon, Milan, Italy.

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  9. Durhane Wong-Rieger

    1. Canadian Organization for Rare Disorders, Toronto, ON, Canada.

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  10. David A. Pearce

    1. Sanford Research, Sioux Falls, SD, USA.

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Although individually rare, the >6,000 known rare diseases (RDs) affect about 300 million people worldwide1. The diversity, complexity and multiplicity of RDs result in severe disparities in scientific knowledge, clinical expertise, availability of diagnoses and treatments, patient outcomes and quality of life.

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Nature Reviews Drug Discovery 21, 319-320 (2022)

doi: https://doi.org/10.1038/d41573-022-00019-z

Acknowledgements

We wish to acknowledge the invaluable contribution of all IRDiRC member organizations and their representatives, of all Scientific Committee members and Consortium Assembly and Constituent and Scientific Committees Chairs and Vice Chairs, of all TF and WG members (Supplementary information) and of the Scientific Secretariat and Scientific Support teams. We thank the Clinical Genome Resource initiative, the Global Alliance for Genomics and Health, the European Joint Programme on Rare Diseases, Rare Diseases International, and the University of Twente for collaborations in specific TFs and WGs, and Ana Rath, Emmanuel Maxime and the Orphanet team for rare diseases metrics and for the database of funded projects (Supplementary information). The IRDiRC Scientific Secretariat is funded by the European Union through the European Joint Programme on Rare Diseases (Horizon 2020 Research and Innovation Programme Grant Agreement no. 825575) and is hosted at the French Institute of Health and Medical Research (INSERM) in Paris, France; previously, it was funded by the European FP7 Contract “SUPPORT-IRDiRC” (no. 305207).

Disclaimer

The views expressed in this publication are the sole responsibility of the authors and do not necessarily reflect the views of their affiliated organizations.

References

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Supplementary Information

  1. Supplementary information

Competing Interests

The authors declare no competing interests.

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