From Data Silos to FAIR Solutions: Radboudumc and World Duchenne Organization Advance FAIR Data for Rare Diseases

Radboudumc has partnered with the World Duchenne Organization, Duchenne Parent Project Netherlands, and the Duchenne Data Foundation to achieve major progress in making rare disease data FAIR. An approach that helps mitigate barriers to reusing data; that is, data within a given registry are Findable and Accessible by machines, data are Interoperable under well-defined conditions so that information about the same topic can be combined, and data are thus Reusable.  

A new article in the Journal of Neuromuscular Diseases (October 1, 2025), “The FAIR Journey of a Patient-Driven Registry” describes the process and lessons learned from the FAIRification of the Duchenne Data Platform (DDP), a Dutch, patient-driven registry for Duchenne and Becker muscular dystrophy. FAIRification refers to the process of transforming data and metadata so that they comply with the FAIR principles — meaning the data become Findable, Accessible, Interoperable, and Reusable by both humans and machines.  

Led by a multidisciplinary team and coordinated by our Institute for Patient Care colleague Nawel Lalout, the effort focused on transforming key data elements and patient-reported outcomes into machine-readable, interoperable formats while protecting patient privacy. Using a combination of open-source and custom-developed tools, the project introduced a privacy-preserving “data visiting” model, enabling secure, federated analyses without transferring sensitive information. 

The study highlights both the achievements and the challenges of implementing FAIR principles at scale, urging stakeholders to pursue FAIR training, address misconceptions, and leverage open-source tools to expand this model globally. 

“FAIR is not just about technology,” said Peter-Bram ‘t Hoen from Radboudumc. “It’s about its capacity to enhance the quality, transparency, and reusability of data in ways that directly benefit patient outcomes, scientific discovery, and building a future where data truly serve the people behind them.” 

Radboudumc’s involvement reinforces its commitment to responsible data stewardship and to advancing a FAIR-aligned research ecosystem that accelerates discovery and improves care for people living with rare diseases. 

For more information contact Nawel Lalout: nawel.lalout@radboudumc.nl 

Read the full article in the Journal of Neuromuscular Diseases here 

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