Conclusion Better data is the foundation for smarter action on rare diseases and for unlocking the broader health, economic and scientific benefits it can deliver. This paper has outlined five strategies to strengthen rare disease data systems worldwide – defining a minimum dataset, engaging patients, expanding diagnostics, enabling trusted data sharing and applying AI and digital tools – each linked to clear objectives, implementation pathways and stakeholder roles (see Table 3). This recommended call to action in this white paper now aligns with growing global momentum. Rare diseases are increasingly recognized as a public health priority at national and international levels. The World Health Assembly’s 2025 resolution on rare diseases and the forthcoming Global Action Plan for Rare Diseases create a shared framework for progress. Delivering on these ambitions will require collaboration across all sectors, with each stakeholder group playing a distinct but complementary role: –Patient organizations and caregivers can ensure that data systems are participatory, equitable and relevant, bringing lived experience to data design and governance while improving care quality and quality of life. –Healthcare systems can strengthen diagnostic and data-collection capacity, expand registry participation and promote consistent data sharing to accelerate research translation and more innovative care. –Employers can support workforce participation for those affected by rare conditions, benefit from lower absenteeism and turnover and contribute data and insights that help quantify productivity gains. –Payers can use better data to generate stronger evidence for coverage and reimbursement, reduce long-term costs and improve member outcomes. –Governments and health authorities can provide leadership and resourcing, embed rare disease data strategies in public health planning and ensure that insights feed back into equitable policy and system design. –Investors and industry can apply data-driven insights to de-risk R&D, identify new market opportunities and scale innovation responsibly through cross-sector partnerships. Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 28

Making Rare Diseases Count 2026