Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity

Rare diseases affect more than 300 million people worldwide and remain one of the largest areas of unmet need in global health. They have also catalysed innovations with far-reaching impact, including diagnostic platforms, treatments, digital health tools and data-driven care models.

Strengthening rare disease data systems represents the next frontier by creating new infrastructure that enables scientific progress and improves coordination and efficiency across health systems, both for rare diseases and for other more common conditions such as heart disease, cancer and broader metabolic health disorders.

Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity outlines a practical roadmap for improving how data is collected, shared and analysed. The paper provides policy-ready guidance to help governments, healthcare leaders, employers, investors, payers and the health industry to translate the growing recognition of rare diseases into coordinated action.