The European Rare Diseases Research Alliance (ERDERA) and the European Genomic Data Infrastructure (GDI) project are joining forces to speed up rare disease research and improve diagnosis across Europe. The collaboration will be launched on 14 October at a half-day internal workshop in Paris.
Why this partnership matters
This partnership links ERDERA’s work on data and diagnostics with GDI’s European infrastructure for secure genomic data access. In practice, it will help researchers and clinicians find and analyse high-quality genomic and clinical data.
GDI, coordinated by ELIXIR, is realising the ambitions of the 1+ Million Genomes initiative with a €40 million programme to deploy a sustainable, standards-based infrastructure for human genomics across Europe.
Daria Julkowska, ERDERA Coordinator, said: “As a European partnership, we have a responsibility to forge collaborations that avoid duplication and strengthen the whole ecosystem. In that sense, GDI is a critical partner for ERDERA’s Data Services Hub and our diagnostics pipeline. By aligning standards and enabling secure, federated use of genomic and clinical data, we can shorten the journey from data to diagnosis and serve people living with a rare disease more effectively. This collaboration is about turning shared infrastructure into real-world impact.”
From principle to practice
The Paris workshop will outline current activities and goals of ERDERA and GDI, present updates on technical development, ethics and regulation, and national programmes, and focus on the rare disease “use case” as a proving ground for joint work. This involves a concrete, real-world scenario showing how the infrastructure supports day-to-day tasks such as making data formats compatible, running cross-border analyses and improving diagnostic pathways. The meeting will conclude with agreed actions and a timeline for joint demonstrators.
Serena Scollen, GDI Project Coordinator and Head of ELIXIR’s Human Genomics and Translational Data team, said: “Secure access to high-quality genomic and clinical data is essential for robust rare disease research and faster, more accurate diagnostics. Working together should help connect infrastructure with practice and show tangible benefits for patients and healthcare systems across Europe.”
