Every day across Rwanda and the broader African continent, children and adults live with conditions that few clinicians recognize, few laboratories can diagnose, and few health systems are equipped to treat. These illnesses, known as rare diseases, are not rare in their impact. They are persistent, isolating, and too often invisible. Rare diseases encompass 5,000–8,000 mostly genetic and chronic disorders, affecting over 300 million people worldwide, with more than 50 million cases in Africa alone. Many begin in childhood and require specialized care. Treatments are limited or, in many cases, unavailable, making early diagnosis essential for improving outcomes. As we commemorate World Rare Disease Day, we are reminded that this invisibility is not accidental. It reflects how health systems are structured, the priorities we set, and where we choose to invest. Families often exhaust their savings searching for answers, and many never receive a diagnosis. For Africa, this day is more than a moment of recognition, it is a strategic opportunity to advocate for health systems that leave no one behind. More than you can Imagine: A call for African leadership This year’s global theme, “More than you can Imagine,” captures both the immense challenges faced by families and the incredible potential of what we can achieve through African-led innovation. The burden of a rare disease is often more than most can imagine. Families frequently exhaust their savings searching for answers, and many never receive a diagnosis. However, we must also imagine a future where Africa is no longer a passenger in global science, but its architect. This means advancing African-led research and regulatory capacity. At the Centre for Impact, Innovation and Capacity Building for Health Information Systems and Nutrition (CIIC-HIN), we believe that if a clinical trial does not include African populations from the start, the resulting innovation may never truly serve us. Without meaningful African participation, treatments are often developed without sufficient evidence of safety and effectiveness in our populations, perpetuating global inequities. Centering patients and building systems Placing communities at the center of innovation is non-negotiable. Patients and families bring essential insight into barriers to care. Their lived experience should guide research priorities and policy decisions. Across Africa, institutions are already demonstrating this vision. Through our three interdependent pillars, the African Knowledge Institute for Innovation & Scientific Advancement (AKIISA), CIIC-HIN, and the Platform for African Clinical Trials (PACT), we have contributed to strengthening research ecosystems, ethics and regulatory readiness, and implementation research capacity that enable African countries to generate high-quality evidence and accelerate equitable access to health innovation. Rare diseases must also be integrated into national health priorities. Delayed diagnosis and lack of treatment impose substantial economic burdens on families and health systems through repeated hospital visits, misdiagnosis, and loss of productivity. Investing in early diagnosis and locally led research reduces long-term costs while improving outcomes. Addressing this requires concrete system investments: the establishment of national rare disease registries to generate epidemiological intelligence; expansion of laboratory-based genomic diagnostic capacity; development of research platforms to enable locally led therapeutic studies; and reinforcement of ethical review systems to ensure timely, safe, and equitable access to new treatments. These investments also strengthen national capacity to address cancer, emerging infections, and other complex conditions, making rare disease investment a catalyst for broader health system resilience. Rwanda’s investments in health information systems, digital health infrastructure, and institutional capacity provide a strong foundation for integrating rare disease diagnosis and research into national systems. All sectors of society have roles to play. When research is led from within Africa, it ensures scientific relevance, builds local expertise, and creates pathways for equitable access once therapies are approved. Without meaningful African participation, treatments are often developed without sufficient evidence of safety and effectiveness in African populations, perpetuating global inequities. From awareness to action World Rare Disease Day must become more than a symbolic moment. It must catalyze structural change. We must move from awareness to investment, from fragmented initiatives to coordinated strategies, and from external dependency to African leadership. Health equity through innovation is not an aspiration, it is a blueprint. It means building systems that leave no patient behind, research agendas shaped by African priorities, and partnerships grounded in mutual respect. The future of rare disease care in Africa will not be determined elsewhere. It will be shaped here, by the choices we make, the institutions we strengthen, and the partnerships we build. On this World Rare Disease Day, let us commit to transforming recognition into responsibility, and responsibility into action. Now is the time for governments, donors, and research institutions to invest in African-led research, diagnostic capacity, and clinical trial platforms that ensure rare disease patients are no longer invisible, but fully included in the future of health innovation. Prof Jeanine U. Condo, MD, PhD, is the Founder and Chief Executive Officer of three interdependent entities that together advance African-led health research and innovation: AKIISA, CIIC-HIN, and PACT. She is the former Director General of the Rwanda Biomedical Centre (RBC) and has held senior academic leadership positions at the University of Rwanda.
