Intractable Rare Dis Res. 2026;15(1):1-3. (DOI: 10.5582/irdr.2026.01015)
From system building to global engagement: Current significance of and future directions for rare disease research in China
Tang W
Rare disease research is undergoing a gradual shift from a primary focus on single-disease mechanisms and drug development toward a more comprehensive agenda encompassing healthcare systems, policy frameworks, and patient engagement. The themed issue of Intractable & Rare Diseases Research (IRDR), entitled "Rare Diseases and Orphan Drugs in China: From System Building to Global Engagement," systematically presents China's recent efforts in building governance structures for rare diseases, strengthening clinical collaboration networks, increasing the use of real-world data, and fostering multi-stakeholder participation. Emerging within the context of a large population and pronounced regional disparities, the Chinese experience offers new analytical perspectives and practical reference points for global rare disease research. It also contributes to an ongoing paradigm shift—from isolated, single-disease breakthroughs toward the development of sustainable, system-level capacity.
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