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.
ERDERA interviews Prof. Radka Kaneva and Dr Petia Stratieva, two leading members of Bulgaria’s National Mirror Group (NMG), to explore how the country is working to align its rare disease ecosystem with European developments.
A legislative own initiative file in the Parliament’s new public health committee sets out what an EU “rare disease action framework” could look like — and why it could change how Europe measures progress for patients.
Drawing on Europe-wide patient and carer surveys, ERDERA highlights how gender can shape diagnostic delays, care burden and the evidence base for rare-disease research.
European Parliament research service assessment, published in February 2026, identifies 31 measures that could form an EU rare disease action plan, highlighting European Reference Networks and cross-border collaboration including ERDERA as drivers of EU added value.
This meeting will focus on practical approaches to phenotyping and diagnosis in undiagnosed conditions, including how to define next steps when a diagnosis remains uncertain, and how to strengthen pathways and collaboration around undiagnosed care.
Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale.
