State of the Art 2025 RD Report: Denmark

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

This report gives an overview of rare disease activities in Denmark 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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The session will introduce the workstream’s activities in data sharing, systematic diagnostic reanalysis, advanced diagnostic pipelines, and genomic and multi-omics innovation.
Bringing clinicians, researchers, patient representatives and families together, the event examined how shorter diagnostic pathways depend not only on better tests, but on shared expertise, structured phenotyping and patient-centred support.
ERDERA and the European Genomic Data Infrastructure have signed a Memorandum of Understanding to strengthen collaboration on secure cross-border access to genomic, clinical and other health-related data, supporting rare disease research and the development of personalised medicine in Europe.