From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem

Abstract

International collaboration is indispensable in rare diseases, yet its depth and impact vary widely. In recent years, China has expanded its engagement in global rare-disease initiatives, but not all efforts translate into lasting progress. This Policy Forum examines China's evolving role through the lens of symbolic versus substantive collaboration. While symbolic efforts enhance visibility, substantive collaboration builds durable infrastructures—such as standardized terminologies, interoperable data systems and registries, and sustained clinical and research networks. Drawing on policy-relevant case examples, this article shows how patient-centered, infrastructure-building approaches can transform episodic engagement into systemic capacity. Looking ahead, the next phase of collaboration must focus on embedding global standards into health information systems, registries, and reimbursement frameworks. With its population scale, growing scientific capacity, and expanding global interaction, China is well positioned to evolve from a participant to a co-shaper of a truly global rare-disease ecosystem.