Making Rare Diseases Count 2026

Efforts to improve the quality and comprehensiveness of rare disease data frequently overlook the individuals, families and communities directly affected. These stakeholders bring unique insights, including natural history data, social and environmental determinants of health, quality- of-life measures and day-to-day experiences with care and treatment. When these insights are captured systematically through “patient registries” – structured databases that collect and track health information from individuals living with a specific condition – they become engines of innovation.22 Examples such as the Registry and BioBank platform operated by the Genetic Alliance (a US-based non-profit that works with patient communities to develop shared data infrastructure and diagnostic programmes to support research and care), launched in 2003, demonstrate how early adoption of these principles can create durable infrastructure for research and care.23 The design of these systems matters as much as their content. Registries and data platforms must be participatory and equitable to build trust and fairness. Involving patients as co-creators in governance and implementation enhances legitimacy, reduces duplication and increases the likelihood that the data generated will be used in decision-making. A powerful early example of participatory data collection came from the online community PatientsLikeMe. When a small 2008 study suggested lithium might slow the progression of amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease or motor neurone disease), patients used the platform to share their experiences and outcomes in real time. Within months, hundreds had contributed structured data, enabling a rapid analysis far larger than the original trial. Although the results showed no therapeutic effect, the effort demonstrated how patient communities can generate credible evidence quickly, ethically and at scale.24 In LMICs, registries can be particularly powerful tools for strengthening health systems and expanding access to care. In Telangana state, India, a partnership with the World Economic Forum has introduced a haemophilia clinical registry that helps clinicians deliver more consistent care, supports better resource allocation by authorities and lays the groundwork for incorporating more patient-reported data in the future. Given the small number of affected individuals with any single rare disease, global collaboration is essential.25 Registries must transcend cultural and linguistic barriers to create datasets that are inclusive and representative, capturing diversity across race and ethnicity, geography, socioeconomic status and other determinants of health.2.2 Strengthen patient engagement in data collection Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 15