Making Rare Diseases Count 2026

Rare disease research and innovation have been powerful catalysts of global health progress. Breakthroughs pioneered in rare disease settings extend far beyond their immediate community, reshaping therapeutics, regulation and the culture of medical innovation more widely. They show how investments in rare diseases generate benefits for all of society – provided they are informed and amplified by data. Driving scientific and therapeutic progress With most rare diseases having a clear genetic origin, they have been central to advancing genetic medicine. Early applications of sequencing technologies focused on rare disorders well before they became routine in oncology and infectious diseases. Discoveries in rare cardiac conditions paved the way for cholesterol-lowering therapies such as PCSK9 inhibitors, which have expanded treatment options for patients at highest risk.14 Rare diseases have also helped incubate new therapeutic platforms: messenger RNA (mRNA) technologies, first explored in rare diseases and select cancers, provided the foundation for the rapid development of COVID-19 vaccines; gene therapies, RNA interference (RNAi), antisense oligonucleotides (ASOs) and base editing all saw their earliest clinical successes in rare indications. Early milestones, including the first personalized base-editing treatment for CPS1 deficiency in 2025, further underscore how frontier technologies are often pioneered in rare disease settings.15Rare diseases are also redefining how advanced therapies are manufactured and delivered. Point-of- care models, such as those developed by US non- profit Caring Cross, bring cell and gene therapies directly into hospital settings rather than relying on centralized facilities, making production viable in both high- and low-resource environments. Rare disease research has reshaped scientific thinking. Fields such as pharmacogenomics and precision oncology draw directly from rare disease research. Some rare diseases even serve as models of resilience or physiological extremes – mimicking extreme physiological states such as altered oxygen use or heightened immune sensitivity – offering insights relevant to space exploration, environmental adaptation and pandemic preparedness.16 Advancing regulation, policy and governance Rare diseases have helped reshape how health systems enable innovation, spurring reforms in regulation, policy and governance. Their complexity has forced institutions to rethink how new therapies are brought into use, setting precedents now applied far beyond the rare disease community. –Regulatory reform: Rare diseases have driven major advances in how medicines are evaluated and approved. They have prompted flexible clinical trial designs and greater use of alternative data sources.17 They have also led to new regulatory pathways such as accelerated approvals that bring promising therapies to patients more quickly.181.3 Advancing scientific discovery and healthcare innovationThese figures underscore both the cost of inaction and the scale of potential returns. Closing data gaps will not only quantify the burden more accurately but also enable key stakeholders to target resources more effectively and track the value of intervention over time. Why costs are overlooked Despite the staggering numbers, most stakeholders in healthcare cannot see the full economic impact of rare diseases in ways that are clear or actionable. The root cause is data fragmentation. Rare disease patients often move among multiple specialists, facilities, jurisdictions and insurance systems. Indirect costs are rarely tracked. Health systems’ measurement of activity is compartmentalized, making it difficult to capture the cumulative impact. Insurers face similar challenges: expenses are dispersed across providers and coded under multiple diagnoses, obscuring the total cost.This fragmentation has profound consequences: health systems struggle to identify high-cost patients for early intervention; researchers cannot link genomic and clinical data with real- world outcomes; regulators lack the evidence to approve therapies efficiently; payers cannot assess the return on investment of early diagnosis and coordinated care; and industry faces higher development costs, longer timelines and greater uncertainty in demonstrating value. The result is that visible spending tells only a fraction of the story. A 2025 study found that rare disease medicines account for roughly 6.6% of total pharmaceutical budgets and just 1.2% of overall public healthcare expenditure across Europe.13 Such numbers are relatively easy to track, but they risk being misinterpreted without the broader context of total economic impact. Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 10