Rare diseases: a comprehensive literature review and future directions
Abstract Rare diseases (RDs) affect a small percentage of the population but collectively impact millions worldwide. Their diagnosis and treatment remain challenging due to clinical heterogeneity, limited research, and high costs. Advances in genomics, artificial intelligence, and orphan drug develo...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2025-07-01
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| Series: | Journal of Rare Diseases |
| Online Access: | https://doi.org/10.1007/s44162-025-00099-6 |
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