State of the Art 2025 RD Report: Portugal

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This 2025 country report outlines the policy, research, care and support landscape for rare diseases in Portugal.

This report gives an overview of rare disease activities in Portugal in 2025, including the national action plan, research and funding, registration and biobanking, organisation of care, newborn screening, diagnostics, patient organisations, information resources, training and orphan medicinal products.

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Feedback is open until 14 July 2026, giving stakeholders an early opportunity to comment during the preparation of a likely legislative proposal for a Council regulation.
At the European Human Genetics Conference 2026 in Gothenburg, ERDERA’s Diagnostic Research Workstream reviewed progress, highlighted early results and used a major European genetics meeting to examine how advances in data sharing and genomic analysis may strengthen rare disease diagnosis across countries.
Boston, 9–11 June 2026: ERDERA's Scientific Coordinator joined the World Orphan Drug Congress USA to set out how stronger clinical research networks can make rare disease trials more feasible across sites and borders.
The 2nd International Conference on Clinical Research Networks (CRNs), organised by European Rare Diseases Research Alliance (ERDERA), Rare Disease International (RDI) and International Rare Diseases Research Consortium (IRDiRC), brought together the global rare disease community to advance innovative clinical research solutions, with a special focus on low- and middle-income countries (LMICs).