We will extend the virtual platform with workflows that allow holistic research based on rare disease data and biological knowledge, fill gaps in technologies identified in previously performed explorative studies and perform proof of principle studies to evaluate the results and improve and optimize the approach. Thereby, we aim at improving the understanding of the etiology and progression or rare diseases and at supporting the discovery of biomarkers and the identification of druggable pathways and targets, and allow the study of disease modifiers such as nutrition, and metabolism (exercise) aspects of lifestyle and exposure to toxicants. In addition, we will provide content for training in pillar 3 to make these new workflows available for the community.

The approach will include the following steps:

  • Knowledge structuring based on text and data mining and expert curation
  • Creation of technical links for integration (database ID linksets, FAIR format conversions from repository data to tool ready data, links between biological entities (e.g. gene variants and their effects)
  • Create disease specific pathways and networks with flexible data representations based on 1 and 2
  • Allow extension of these networks with relevant regulatory information (e.g. transcription factors and miRNAs) and evaluation for intrinsic lifestyle factors (e.g. micronutrient targets) and epigenetic factors and allow extension with external environmental factors like chemical exposure (toxicology) and allow subsequent active node analysis to evaluate these
  • Create complete workflows