The AETIONOMY concept foresees a primary role of the taxonomy in
i) describing and organising the indication-specific data in the data cube, in
ii) linking the data to disease models that are based on causal and correlative relationships and in
iii) support of reasoning over the knowledge that is explicitly represented in related ontologies or knowledge-based disease models.
The consortium has extensive and proven experience in the generation of disease-specific ontologies for NDDs, as demonstrated by the recent publication of the “Alzheimer´s Disease Ontology (ADO)”, and the generation, in collaboration with partners from the pharmaceutical industry, of disease ontologies representing substantial parts of the knowledge on Parkinson´s Disease, Multiple Sclerosis and Epilepsy.
AETIONOMY will not have the resources to validate the entire set of aetiologies linked to the taxonomy in the given time and within the budgetary limits. We have therefore carefully designed a validation strategy that will guide the final prospective clinical study meant to demonstrate the validity of the aetiology-based taxonomy. The consortium brings together four leading clinical centres with proven expertise in conducting such sort of studies; addressing effectively the need to validate the mechanism-based taxonomies for both, PD and AD. A dedicated AETIONOMY work package on ethical and legal aspects has a clear European perspective and scope and is set up in a way that reaches out beyond the AETIONOMY project and actively seeks the coordination with other projects funded under the same theme.
AETIONOMY makes extensive use of developments made in and funded by other IMI or EU projects. In the area of knowledge and data management, we build largely on the work done in OpenPHACTS; and we will re-use the entire data curation pipeline developed in the course of eTRIKS. Modelling and mining principles learned from VPH projects will guide our work, leveraging on our involvement in other large EU research initiatives. Finally, the substantial effort made on the side of clinical data integration in the course of EMIF, the European Medical Information Framework, will be accessible to AETIONOMY.