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Launching a multi-level data strategy for rare eye diseases: a methodological case study from national to European
Camille Beluffi-Marin1, Marilyne Oswald2, Isabella Anna Vacchi3
1Laboratoire de Génétique Médicale, UMR_S INSERM U1112, IGMA (Institut de Génétique Médicale d'Alsace), Université de Strasbourg, Strasbourg, France. beluffi@unistra.fr.
Orphanet Journal of Rare Diseases
|July 21, 2026
Summary
A new multilevel data strategy integrates national and European rare eye disease registries. This framework enhances data sharing and reuse, accelerating research and improving patient care for rare vision conditions.
Area of Science:
- Ophthalmology
- Health Informatics
- Data Science
Background:
- Rare eye diseases present significant challenges in research and patient care due to their rarity and complexity.
- Existing data infrastructures often lack interoperability, hindering collaborative efforts.
- A coordinated, multilevel approach is needed to aggregate and utilize data effectively.
Purpose of the Study:
- To present a methodological framework for an integrated, multilevel data strategy for rare eye diseases.
- To illustrate the vertical articulation of data collection and reuse from national to European levels.
- To enhance data sharing and secondary use for research and improved patient care.
Main Methods:
- Development of a tiered data infrastructure: BaMaRa (national registry), FREDD (disease-specific data warehouse), and REDgistry (European registry).
- Ensuring interoperability between national and European data systems (BaMaRa, FREDD, REDgistry).
- Alignment with FAIR principles for data accessibility and secondary use.
- Utilizing a 'spaceship' metaphor to describe the ecosystem's structure and data flow.
Main Results:
- Successful integration of national (BaMaRa) and European (REDgistry) rare eye disease data infrastructures.
- FREDD data warehouse provides granular phenotypic and genotypic data for rare eye conditions.
- The framework facilitates structured data collection, harmonization, and reuse across borders.
- The European Health Data Space is positioned as a future platform for secure data access.
Conclusions:
- The multilevel data strategy provides a robust framework for managing rare eye disease data.
- Interoperability and adherence to FAIR principles are crucial for effective data sharing and research.
- Collaboration among diverse stakeholders is essential for sustaining this complex data ecosystem.
- This integrated approach accelerates research and improves care for patients with rare eye diseases.