Making Rare Diseases Count 2026

In LMICs, basic capacity constraints are often the most immediate challenge to rare disease data collection. Health systems may be under-resourced and overstretched, with shortages of trained professionals, fragmented or paper-based records and limited governance frameworks for data use. Affordability is a constant pressure, and inequitable digital access further limits reach. These barriers are real, but they are not insurmountable. With appropriate tools, training and support, individuals and communities can play an active role in data initiatives. Local patient groups – both formal and informal – are often pivotal, expanding registries, mobilizing participation and ensuring that systems reflect community priorities. Strengthening the healthcare workforce is critical. This includes training clinicians to recognize and accurately record rare diseases, equipping data managers to handle sensitive information securely and enabling regulatory authorities to oversee quality, privacy and ethical use. Primary care networks can be particularly powerful levers,42 serving as gateways for registry enrolment and early case identification.43 Directly transplanting strategies from high-income settings is rarely effective. Yet approaches that prioritize interoperability, patient engagement and low-cost, adaptable tools can succeed. Many LMICs are already innovating in ways that are more cost-effective and sustainable than those in wealthier nations. Mobile health platforms, for example, have enabled the collection of patient- reported outcomes in areas with limited broadband but broad mobile coverage. Some countries are also leapfrogging traditional barriers. China’s nationally networked hospital and rare disease data ecosystem was built rapidly, avoiding many of the legacy integration problems faced elsewhere.44 Economic incentives can also accelerate progress – India, for instance, is positioning rare diseases as a growth sector, leveraging its manufacturing capacity to supply therapies, including generic medicines, for global markets. Sustainable financing models are essential for embedding rare disease data initiatives into national health strategies. Approaches such as blended finance, pooled regional resources and public–private partnerships are increasingly helping LMICs move beyond short-term donor dependency towards self-sustaining rare disease programmes.3.1 Building healthcare system capacity in LMICs 24 Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity