Researchers from the Universitat Oberta de Catalunya (UOC) and the technology center Eurecat have developed an innovative formal representation of rare disease data, including information unavailable in current models on rare disease patients’ biological, psychological and social profile. For their research, the researchers have obtained data on 25 patients from organizations such as Eurordis, the Spanish Rare Diseases Federation (FEDER) and the Rare Diseases Patients’ Association of Iran with the goal of including testimonials from different territories with different health systems.
The term used to refer to formal representations of knowledge that establish the different concepts of a specific field and the relationships between them is ontology. In such representations, it is important to use an open-source data format and international standards in order to ensure that this representation is accessible in all spheres. The ontology performed by the UOC uses an open source code and is based on standards defined by the World Health Organization (WHO).
A tool for understanding patients that goes beyond treatments
The research is described in the article “Biomedical Holistic Ontology for Patients With Rare Diseases”, published in the International Journal of Environmental Research and Public Health. Lead researcher Laia Subirats explained that its value lies in “the fact that a single ontology integrates not just medical information but also information about other aspects that affect patients’ lives, such as environmental, geographical and psychological factors, their social relations and their interests. It also includes information taken from Twitter, which gives us social data.
The end result is an improved understanding of the patient and access to new data about the patient’s interaction with the disease. Viewed in this light, we can say that it is a holistic ontology”. Subirats is a course instructor at the UOC’s Faculty of