As part of the FAIR Training School 2025 – Advancing FAIR data practices for rare disease research, organised by ERDERA and hosted by the World Duchenne Organization, our researcher, Annalisa Landi, held a session on “Data Protection, Ethics and Regulatory Aspects”.

She focused her contribution on the key aspects of personal data protection, ethics, and the regulatory framework, in rare disease research, where data is often scarce, fragmented and complex due to the low number of patients.

Health Data and Rare Disease Research

Annalisa emphasised that health data represents a significant resource for research, especially in the field of rare diseases, where access to, sharing of and interoperability of data can support faster diagnosis, innovative studies, and new therapeutic opportunities. At the same time, using this data also poses significant challenges in terms of re-identification risks, protection of vulnerable populations, and management of genetic data.

Data Protection and Research Ethics

The presentation provided an overview of the data protection considerations with a focus on the European framework and the fundamental principles of the EU General Data Protection Regulation (GDPR) and the rights of data subjects. Ethics aspects were also discussed including insights related to the informed consent, respect for human rights, and the requirement for ethics committee approvals to ensure transparency.

The European Regulatory Framework

Regulatory aspects were also addressed with a focus on the European framework related to health data including  the European Health Data Space (EHDS) Regulation, which aims to foster responsible health data management and the development of sustainable research ecosystems across Europe.

Key Take-Home Messages

Some essential takeaways from the talk include:

• always verifying accessibility conditions and informed consent preferences;
• adopting tailored data protection measures to safeguard patient privacy;
• complying with the applicable ethical, data protection, and regulatory frameworks;
• setting up clear data sharing/ access/ use agreements.

With her talk, Annalisa Landi offered a comprehensive overview of the challenges and opportunities linked to the ethical and secure management of health data for research use, reaffirming the Benzi Foundation’s commitment to promoting responsible research practices aligned with the FAIR principles.