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.
On 24 February, in Brussels and online, EURORDIS will bring the rare disease community together for its fifteenth Black Pearl Awards ceremony, held in the lead‑up to Rare Disease Day.
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.
Annual awards celebrating outstanding achievements by people living with a rare disease and those making a difference across the rare disease community (patient advocacy, policy, science, care, industry and beyond).
Rare disease researchers, clinicians, patient advocates and data experts are invited to help shape four new IRDiRC activities linked to the new IRDiRC Roadmap, with applications closing on 20 February 2026.
The two-day event will focus on translating research and policy initiatives into tangible benefits for Rare Disease patients through better prevention, diagnosis, and treatment.
