The de novo FAIRification process of a registry for vascular anomalies

Background: Patient data registries that are FAIR - Findable, Accessible, Interoperable, and Reusable for humans and computers - facilitate research across multiple resources. This is particularly relevant to rare diseases, where data often are scarce and scattered. Specific research questions can be asked across FAIR rare disease registries and other FAIR resources without physically combining the data. Results: We successfully developed and implemented a process of making a rare disease registry for vascular anomalies FAIR from its conception - de novo. Here, we describe the five phases of this process in detail: i) pre-FAIRification, ii) facilitating FAIRification, iii) data collection, iv) generating FAIR data in real-time, and v) using FAIR data. This includes the creation of an electronic case report form and a semantic data model of the 9Set of Common Data Elements for Rare Disease Registration9 released by the European Commission, and the technical implementation in the Electronic Data Capture (EDC) system for real-time, automatic data FAIRification. Further, we describe how we contribute to the four facets of FAIR, and how our FAIRification process can be reused by other registries. Conclusions: In conclusion, a detailed de novo FAIRification process of a registry for vascular anomalies is described. To a large extent, the process may be reused by other rare disease registries, and we envision this work to be a substantial contribution to an ecosystem of FAIR rare disease resources.