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.
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.
When it comes to rare diseases, more than 70% have a genetic origin. To truly understand these conditions—and find ways to treat them—we need to start at the root: our DNA.
