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Lecture, Presentation, Training materials
HemaFAIR Lecture 5 - Introduction to European Rare Disease Registry Infrastructure (ERDRI)
This lecture, delivered by Dr. Andri Papadopoulou (European Commission Joint Research Centre), introduces the European Rare Disease Registry Infrastructure (ERDRI) and its role in supporting high-quality, interoperable and reusable rare disease data across Europe. The session presents the main components of ERDRI and explains how the infrastructure facilitates the registration, discovery and semantic harmonisation of rare disease registries, enabling cross-border research collaboration and data sharing.
Within the HemaFAIR context, the lecture highlights how ERDRI contributes to the implementation of the FAIR principles by providing common standards, metadata repositories and tools that improve registry interoperability and data integration. It also discusses how participation in ERDRI enhances the visibility, accessibility and reuse of rare disease datasets, supporting federated research and evidence generation for clinical and translational studies.
DOI: https://doi.org/10.5281/zenodo.14944516
Licence: Creative Commons Attribution 4.0 International
Contact: Dr Sotiroula Chatzimatthaiou at sotiroula@cing.ac.cy
Keywords: FAIR principles, Research Data Management, Open Science, Data sharing, Data reuse, Metadata, European research projects, HemaFAIR, ERDRI, Registry, Rare Diseases
Target audience: Researchers, Data Scientist, Data stewards, Data managers, Students
Resource type: Lecture, Presentation, Training materials
Version: 1
Status: Active
Prerequisites:
No prerequisites. This material is intended as a first introduction to the Biomedical Ontologies
Learning objectives:
-Describe the purpose and structure of the European Rare Disease Registry Infrastructure (ERDRI)
-Explain how ERDRI supports interoperability and data sharing among rare disease registries
-Identify the main ERDRI components and their functions (e.g. registry directory and metadata repository)
-Understand how ERDRI contributes to the implementation of the FAIR principles
-Recognise the benefits of registering a registry within ERDRI for research collaboration and data reuse
-Describe the relevance of ERDRI for rare disease and haemoglobinopathy research in the European context
Date published: 2025-02-28
Contributors: Petros Kountouris
Scientific topics: FAIR data, Data management, Open science
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