From system building to global engagement: Current significance of and future directions for rare disease research in China.

Abstract

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.