Making Rare Diseases Count 2026

High-income countries often have advanced health and data infrastructure but face different challenges. Systems are frequently siloed, fragmented or misaligned across agencies, making it difficult to link and analyse data at scale. In this context, the opportunity lies in expanding and integrating what already exists rather than building from scratch. Priorities may include stimulating and harmonizing research with specialist care centres, embedding rare diseases into national biobanks and genotype–phenotype studies and ensuring interoperability across secure data environments. Some countries are already moving in this direction – a United Kingdom government and Wellcome Trust investment of up to £600 million ($808 million) is building a federated health data research service that will enhance the National Disease Registration Service, improving access and linkage to rare disease data for research and trial recruitment.45 For high-income countries, the challenge is to align technical capability with policy, governance and incentives that encourage data sharing and coordinated action. When these elements are in place, mature systems can generate high-quality data that not only benefits their own populations but also strengthens the global rare disease ecosystem through shared insights and innovations.3.2 Maximizing impact in high-income countries 26 Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity