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.
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.
In its first year, ERDERA has brought together 10 000 harmonised genomic and phenotypic datasets from unsolved rare disease cases across Europe, creating a secure, standardised and scalable resource.
Published on 14 December, this WHO technical document maps global trends in registered clinical studies using human genomic technologies from 1990 to 2024, including patterns of inclusion and equity.
The Solve-RD consortium demonstrates how structured multidisciplinary “Solvathons” can address the growing complexity of advanced omics diagnostics and improve collaborative rare disease diagnosis.
