Mapping Rare Disease Progress and Challenges

This white paper documents the evolution of the rare disease field, highlighting its transformation from a fragmented collection of conditions into a coherent sector with established technologies, regulatory frameworks, and economic dynamics. It outlines the cumulative progress achieved over decades through research, regulatory experimentation, and patient engagement, while also identifying ongoing structural challenges that hinder further advancement. Key issues include the need for improved delivery technologies, reliable long-term evidence generation, and sustainable pricing frameworks. The paper presents a detailed mapping of over 150 rare-disease biotech companies in the EU and UK, illustrating the diverse landscape of actors involved in rare disease innovation. It emphasizes the interconnectedness of scientific, regulatory, and industrial domains, and the importance of understanding the broader system to address specific topics effectively. The report concludes that while the rare disease ecosystem has matured significantly, it remains a dynamic field requiring ongoing collaboration among stakeholders to address existing gaps and enhance therapeutic development.