The Making Rare Diseases Count report examines how strengthening data systems for rare diseases can transform healthcare outcomes and reveal one of the largest untapped opportunities in global health. Rare conditions — though individually uncommon — collectively affect more than 300 million people worldwide and drive innovations in diagnostics, treatments, and digital care models. The paper presents a practical roadmap for improving how data is collected, shared, and analysed to better coordinate action, inform policy, and unlock economic and health‑system value.
Key Insights
Hidden Scale & Impact:
Rare diseases are a major global health issue, affecting hundreds of millions of lives and highlighting significant gaps in current data systems.Data as a Foundation:
Better, interoperable data collection and sharing is essential to reveal true prevalence, guide investment, and improve diagnosis and care.Roadmap for Action:
The report outlines policy‑ready guidance for governments, healthcare leaders, payers, industry, and investors to strengthen data infrastructure and coordination.Catalyst for Innovation:
Improved data systems can not only advance rare disease research but also support broader health system efficiency and innovation.
