Making Rare Diseases Count 2026

The spillover effects of rare disease research and innovation TABLE 1 –Policy innovation: The need to coordinate action across research, care and reimbursement has inspired new policy tools to link these efforts. Governments have introduced rare disease strategies and national frameworks that align incentives and promote early diagnosis and access. –Governance and accountability: Sustaining momentum requires strong governance to ensure accountability. National frameworks such as the UK Rare Diseases Framework and Action Plan illustrate how structured oversight, transparent reporting and cross-agency coordination can translate policy ambition into lasting action. Patient advocacy groups have been central to these shifts by helping communities prepare for participation in clinical trials, contributing to protocol design, pressing for new regulatory and policy frameworks and building capacity to engage in access and reimbursement decisions. Together, these efforts are shaping how new therapies are developed and delivered across healthcare. Technologies and therapeutic platforms Rare disease focus area Direct impact on rare disease Broader impact on healthcare and medicine Sequencing technologiesSequencing platforms enabled diagnosis, natural history studies and drug development for rare genetic diseases and are now embedded in routine rare disease screening and diagnostic pathways.Next-generation sequencing platforms developed through rare disease research are now widely applied across oncology, infectious diseases and other areas of medicine. Genetic medicine Therapeutic platforms – including gene therapy, ASOs, mRNA, RNAi and base editing – achieved early clinical successes in rare diseases, improving outcomes in previously untreatable conditions and de-risking novel modalities.Platform technologies pioneered in rare diseases now underpin treatments for more common conditions, including mRNA vaccines and expanding gene- and RNA-based therapies. Cardiometabolic medicineDiscovery of rare inherited cardiac conditions informed targeted interventions and preventive strategies for affected patients and families.Insights from rare genetic heart conditions advanced understanding of lipid metabolism, contributing to the development of widely used cholesterol-lowering therapies. Precision oncology Study of rare inherited cancer syndromes and molecularly defined tumours enabled genotype- driven diagnosis, stratification and treatment selection.Genomic stratification approaches developed in rare and molecularly defined cancers are now central to precision oncology and biomarker-guided cancer care. Approaches and methodologies Rare disease focus area Direct impact on rare disease Broader impact on healthcare and medicine Registries and data standards The need to aggregate small, geographically dispersed patient populations drove early attention to consistent data definitions, classification and cross-system comparability.Approaches to data collection and standardization developed in rare disease contexts informed wider efforts to connect health data across institutions and borders. Regulatory flexibility Rare disease development helped establish early precedents for small trials, adaptive designs, proxy measures of clinical outcomes and conditional approvals in areas of high unmet need.Regulatory approaches first normalized in rare diseases informed broader accelerated approval pathways and evidence frameworks used in oncology, infectious diseases and other serious conditions. Patient engagement Rare disease communities pioneered structured patient engagement, patient-reported outcomes and the systematic inclusion of lived experience in research and regulatory decision-making.Patient-focused regulatory initiatives and wider acceptance of patient-reported evidence across medicine were shaped in part by practices established in rare disease contexts. Screening and early detectionRare disease contexts established early approaches to genetic and biomarker-based screening, including ethical, clinical and data frameworks for identifying risk before symptom onset.Screening methodologies and governance approaches developed in rare diseases informed wider applications in inherited cancer screening, carrier screening and other population health contexts. Source: World Economic Forum, Rare Disease Community analysis Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 11