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Rare diseases remain a formidable public health challenge. The key to unlocking breakthroughs in diagnosis and treatment is fostering dynamic international partnerships and streamlined data

sharing. The empowerment of patient advocacy groups is essential, as they are pivotal in driving innovative research and elevating health-care standards for these often under-represented

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PubMed Central  Google Scholar  Download references ACKNOWLEDGEMENTS D.T. was the Director of the National Center for Rare Diseases, Istituto Superiore di Sanità (Rome, Italy) until 31

August 2022 and most activities on rare diseases were performed in this institutional role. Both authors are board members of the Undiagnosed Diseases Network International (UDNI) and they

are grateful to all other UDNI members. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Study Centre KOS - Science, Art, Society, Rome, Italy Domenica Taruscio * National Human Genome Research

Institute, National Institutes of Health, Bethesda, MD, USA William A. Gahl Authors * Domenica Taruscio View author publications You can also search for this author inPubMed Google Scholar

* William A. Gahl View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Domenica Taruscio. ETHICS DECLARATIONS COMPETING

INTERESTS The authors declare no competing interests. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Taruscio, D., Gahl, W.A. Rare diseases: challenges

and opportunities for research and public health. _Nat Rev Dis Primers_ 10, 13 (2024). https://doi.org/10.1038/s41572-024-00505-1 Download citation * Published: 29 February 2024 * DOI:

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