Making Rare Diseases Count 2026

When informed by high-quality data, investments in rare diseases thus create reinforcing benefits that extend throughout society. This virtuous cycle operates across four interconnected domains, with progress in one area fuelling gains in the next. 1. Clinical impact  system efficiency: Better data, informed by robust screening and diagnostic systems, enables earlier identification of rare diseases and feeds back into improved research and care. These improvements translate directly into lower costs through fewer emergency visits, shorter hospital stays and more efficient resource use. 2. System efficiency  research capital: When health systems, payers and governments can measure and manage rare disease costs, they unlock resources for reinvestment. At the same time, better data reduces the time and expense of R&D, making rare disease innovation more attractive to industry and investors. 3. Research capital  rare disease innovation: Increased investment accelerates the development of new healthcare technologies, from diagnostics and therapeutics to digital health tools and data-driven care models. Rare diseases often serve as the proving ground for these innovations. 4. Rare disease innovation  spillover effects: The scientific insights and healthcare technologies established in rare disease research consistently spill over into more common conditions. Advances first tested or refined in rare conditions, such as gene and RNA-based therapies or genetic sequencing platforms, are now driving progress across many common diseases. Each turn of this cycle strengthens health systems, expands economic capacity and generates resources for the next wave of rare disease investment. Global equity and the data imperative A key caveat remains: most rare disease breakthroughs have occurred in high-income countries. Global equity depends on targeted investments in LMIC health systems, where stronger data can help identify gaps, track progress and guide investment in ways that scale innovation fairly. The International Rare Disease Research Consortium (IRDiRC), established in 2011, seeks to advance this kind of global coordination. By bringing together public funding agencies, industry and umbrella patient organizations, it set ambitious targets: achieving a diagnosis for undiagnosed cases within one year, catalysing 1,000 new therapies and developing methodologies to evaluate their impact.19 Meeting targets like these will require stronger data systems. Section 2 of this paper examines how better data can unlock even greater impact.1.4 The virtuous cycle: How rare disease investments compound Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 12