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Rare diseases: challenges and opportunities for research and public health

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 conditions.

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Fig. 1: Opportunities to address the challenges faced by patients with rare diseases and their families and caregivers.


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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.

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Correspondence to Domenica Taruscio.

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Taruscio, D., Gahl, W.A. Rare diseases: challenges and opportunities for research and public health. Nat Rev Dis Primers 10, 13 (2024).

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