Foreword Rare diseases are one of the largest areas of unmet need in global health. While individually uncommon, they collectively affect more than 300 million patients around the world. When families and caregivers are included, the circle of direct impact expands to more than 1 billion people,¹ resulting in immense human and economic costs across societies. By some estimates, the total global cost exceeds $7 trillion each year.² Yet the story of rare diseases is also one of extraordinary progress. The innovations incubated in this space – from diagnostic platforms to advanced therapeutic modalities, digital health tools and data-driven care models – have not only delivered life-changing solutions for people living with rare conditions but also underpinned scientific insights and healthcare innovations that have transformed medicine itself.The benefits extend to other stakeholders, too. Rare disease investments reduce pressure on health systems, enhance workforce productivity, improve the efficiency of insurance systems and strengthen fiscal sustainability for governments. The challenge now is to make these gains visible, measurable and replicable across societies. Better data is the foundation that makes this possible. Data illuminates unmet needs, guides investment and enables collaboration across sectors and borders. When used responsibly, data helps turn a multitrillion-dollar challenge into a shared opportunity for innovation and impact. This paper offers a roadmap for achieving this: five strategies to strengthen rare disease data systems worldwide and unlock the full potential of these conditions to drive progress for all.Shyam Bishen Head, Centre for Health and Healthcare; Member of the Executive Committee, World Economic ForumElizabeth Hampson UK Life Sciences and Health Innovation Partner, DeloitteSoraya Bekkali Senior Vice-President, Europe, Canada and International, Alexion, AstraZeneca Rare Disease Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar OpportunityFebruary 2026 Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 3

Making Rare Diseases Count 2026