JMIR Publications

ABSTRACT

Background:

Fibroproliferative/fibrotic diseases (FD) are one of the most frequent age-related diseases, responsible for more than 40% mortality in developed countries. Despite these diseases’ importance, insufficient attention is given to FD. FD are rarely addressed as a group of diseases; rather the emphasis is often placed on particular diseases like COPD, IPF or organ related fibrotic lesions like pulmonary fibrosis or liver cirrhosis. Therefore, research into FDs is limited and no effective antifibrotic treatment is known. We propose the development of a comprehensive FD ontology (FDO) and its disclosure into the public domain as an initial step toward taking a more methodical approach to the wide domain of FD. Domain ontologies allow characterization of concepts/entities and their relationships, providing a discourse conceptual framework and a common vocabulary.

Objective:

The objective of this paper is to present the study protocol for the FDO creation, to ensure transparency and high standards during its development and to enhance the use of the ontology once it is in the public domain.

Methods:

The overall aim is to design and implement an ontology that will provide a comprehensive representation of the wide domain of FD. The FDO will be created using the Protégé ontology editor in the Web Ontology Language (OWL) format, adhering to the ontology development life cycle. The modelling process will be carried out manually using Protégé, according to the methodologically defined process including targeted scoping reviews of information stored in the PubMed MEDLINE, expert knowledge and ontology development process. A combined top-down and bottom-up strategy to identify the concepts and relations will be applied. An expert team will identify the core terminology based on their expertise and the findings of systematic and repeated iterations of scientific literature reviews.

Results:

As a result, a comprehensive FDO will be developed. The FDO is aimed to cover a broad range of major biomedical concepts. The concepts will be enriched by synonyms, definitions, and references. The FDO will attempt to incorporate different users’ views on the FD domain, including those of clinicians, health informaticians, medical researchers and public health experts.

Conclusions:

We anticipate that the FDO will pave the way for more extensive studies of FD, as it will make it possible to reason, infer, identify processes between concepts, and apply this knowledge in a variety of contexts, such as developing specialized software, establishing a community of researchers, and advancement of a domain's understanding. Common terminology and comprehension of concepts and relationships among various medical specialists may contribute to the acceleration of scientific advancement and novel solutions’ discovery. FDO will be made publicly available, and its framework will serve as the basis for future studies, innovations, and public health initiatives.