Egypt is showing how a resource-constrained health system can become a regional leader in rare disease innovation by making data visible and actionable. Over the past two decades, it has built one of the most comprehensive systems of rare disease recognition and response in the Middle East and North Africa (MENA). Its progress and potential are driven by a combination of data-driven innovation and sustained political commitment to the rare disease community. From screening data to systemic reform Data-driven screening and diagnostics have been central to Egypt’s progress. According to Egypt’s Ministry of Health, a digitalized newborn screening programme now covers more than 90% of neonates. Pre-marital screening has reached 3 million citizens, providing valuable population-level insights into haemoglobinopathies and other conditions. Evidence from these programmes has directly shaped policy. Early findings from newborn screening for congenital hypothyroidism and phenylketonuria (PKU) demonstrated cost-effectiveness, convincing policy-makers to expand coverage nationally. The results led to the creation of specialized treatment centres, provider training and standardized protocols that have embedded rare disease management across the health system. Data continues to drive reform. Research from Ain Shams University showing a 4.35% prevalence of genetic disorders in paediatrics has influenced medical curricula and spurred the establishment of new genetics units across universities. Egypt is also piloting AI-based diagnostic systems to shorten diagnostic delays and guide resource allocation. Building a national registry Egypt’s wider digital health transformation is creating new opportunities for rare disease care. The Digital Egypt 2030 strategy and Universal Health Insurance System already hold more than 4.5 million electronic health records and 42 million digital prescriptions. These assets provide the backbone for a planned national rare disease registry. A dedicated scientific committee is reviewing registry data fields to ensure relevance for rare diseases. Universities, research centres and international partners are collaborating with the government to build capacity and secure funding. The Egyptian Healthcare Authority is also expanding “virtual hospitals” through telemedicine to reach underserved communities. Sustained political commitment Egypt’s government has reinforced and accelerated these efforts. Health is enshrined as a constitutional right, providing a strong legal foundation for rare disease care. This principle has been translated into practice through the passage of a rare disease law that secures governance and sustainable funding. More recently, rare diseases were elevated to national priority status alongside cancer and cardiovascular disease in the National Health Strategy 2024–2030. On the global stage, Egypt co-sponsored the 2025 World Health Assembly resolution, signalling intent to help shape the forthcoming Global Action Plan on Rare Diseases. The prioritization of rare diseases in Egypt reflects both scientific and societal realities, notably a high prevalence of genetic disorders linked to consanguinity, which prompted the early adoption of newborn screening and research focused on locally prevalent conditions. Comparable initiatives are emerging across the MENA region, where similar issues have spurred investment in national screening and rare disease initiatives. With strong political commitment, a rapidly maturing digital infrastructure and growing international partnerships, Egypt is transforming invisible conditions into measurable health gains – and showing that even resource-constrained systems can lead in rare disease innovation.CASE STUDY 5 How Egypt is building a data backbone for rare diseases First part of the title: Second part of the title 25

Making Rare Diseases Count 2026