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.
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.
Effective collaboration between industry, academia, and patient organizations is essential to advance standardized platform technologies. A recent example is the newly launched European Rare Diseases Research Alliance (ERDERA).
