Towards a formalization of disease-specific ontologies for neuroinformatics.by: A Gupta, B Ludäscher, JS Grethe, ME Martone
Neural Netw, Vol. 16, No. 9. (November 2003), pp. 1277-1292.
We present issues arising when trying to formalize disease maps, i.e. ontologies to represent the terminological relationships among concepts necessary to construct a knowledge-base of neurological disorders. These disease maps are being created in the context of a large-scale data mediation system being created for the Biomedical Informatics Research Network (BIRN). The BIRN is a multi-university consortium collaborating to establish a large-scale data and computational grid around neuroimaging data, collected across multiple scales. Test bed projects within BIRN involve both animal and human studies of Alzheimer's disease, Parkinson's disease and schizophrenia.Incorporating both the static 'terminological' relationships and dynamic processes, disease maps are being created to encapsulate a comprehensive theory of a disease. Terms within the disease map can also be connected to the relevant terms within other ontologies (e.g. the Unified Medical Language System), in order to allow the disease map management system to derive relationships between a larger set of terms than what is contained within the disease map itself. In this paper, we use the basic structure of a disease map we are developing for Parkinson's disease to illustrate our initial formalization for disease maps.
|Journal of Biomedical Informatics archive|
Volume 41 , Issue 5 (October 2008) table of contents
Year of Publication: 2008
Developing cures for highly complex diseases, such as neurodegenerative disorders, requires extensive interdisciplinary collaboration and exchange of biomedical information in context. Our ability to exchange such information across sub-specialties today is limited by the current scientific knowledge ecosystem's inability to properly contextualize and integrate data and discourse in machine-interpretable form. This inherently limits the productivity of research and the progress toward cures for devastating diseases such as Alzheimer's and Parkinson's. SWAN (Semantic Web Applications in Neuromedicine) is an interdisciplinary project to develop a practical, common, semantically structured, framework for biomedical discourse initially applied, but not limited, to significant problems in Alzheimer Disease (AD) research. The SWAN ontology has been developed in the context of building a series of applications for biomedical researchers, as well as in extensive discussions and collaborations with the larger bio-ontologies community. In this paper, we present and discuss the SWAN ontology of biomedical discourse. We ground its development theoretically, present its design approach, explain its main classes and their application, and show its relationship to other ongoing activities in biomedicine and bio-ontologies.