A Milestone Moment for Rare Disease Research in Europe

Rare Disease Day 2026 offers a fitting opportunity to reflect on Europe’s growing momentum in collaborative rare disease research. A central milestone on this path was the 4th ERICA General Assembly (GA) and the 1st ERN Research Conference, held in Udine, Italy, from 11–13 December 2024 ERN Research Conference | ERICA. This joint event gathered representatives from all 24 European Reference Networks (ERNs), clinicians, researchers, patient organisations, and partners from across and beyond the European rare disease ecosystem.

The meeting served two key purposes:

1. to present the progress of the European Rare Disease Research Coordination and Support Action (ERICA) https://erica-rd.eu/, and
2. to bring together the wider ERN research community in a dedicated scientific conference for the first time.

The Udine meeting marked not only the culmination of ERICA’s coordinated work but also the beginning of a new phase for ERN-driven research as Europe transitions toward the future European Rare Diseases Research Alliance (ERDERA).

Introducing the OJRD Special Collection

This blog marks the launch of the Orphanet Journal of Rare Diseases (OJRD) Special Collection dedicated to the ERICA ERN Research Conference:
🔗 Collection link: https://link.springer.com/collections/jicfefdcbe

The Collection builds directly on the scientific work presented during the 4th ERICA GA and 1st ERN Research Conference in Udine, where researchers from all 24 ERNs shared new insights, tools, and methodologies in rare disease research.

The full abstract and poster collection from the meeting — covering natural history studies, registry development, diagnostic innovation, clinical outcome measures, small‑population trial design, and patient‑centred research — is now formally captured in the OJRD Supplementary Issue:
🔗 Supplements will appear here: https://link.springer.com/journal/13023/volumes-and-issues

The poster overview from the conference can also be viewed on the ERICA website:
🔗 Poster overview: https://erica-rd.eu/about/governance/general-assembly/ga2024/posters/ .

These publications ensure long‑term visibility of the scientific contributions from Udine and form the foundation for deeper exploration within this Special Collection.

As articles and supplements are still in final phase of preparation, readers are warmly invited to return over the coming months to follow the publications as they become available.

What the OJRD Collection Will Cover

The OJRD Collection will highlight key themes emerging from ERN research, including:

• harmonised data approaches and interoperability
• advances in diagnostics and disease monitoring
• methodologies tailored to rare and ultra‑rare conditions
• clinical trial readiness within ERNs
• patient involvement and co‑creation of research
• collaborative tools and infrastructures built through ERICA

Together, these contributions reflect the growing strength and maturity of the ERN research ecosystem and offer a forward‑looking perspective as Europe transitions toward the future ERDERA partnership and Clinical Research Network.