AIM OF THE CALL

The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e. a disease affecting not more than five in 10 000 persons in the European Community, EC associated states and Canada.

The research projects have to focus on hypothesis-driven use of multi-omic integrated approaches for discovery of disease causes and/or functional validation in the context of rare diseases.

Transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:

• Combined multi-omics approaches (e.g. epigenomics, transcriptomics, metabolomics, proteomics, etc.) that complement genomics-based gene discovery strategies and that are driven by a lead hypothesis. These multi-omics approaches should extend beyond descriptive “-omics” data gathering, such as simple whole exome/genome sequencing for disease gene discovery. For transcriptomic and proteomic data, a strong rationale for physiological relevance of the collected sample/tissue/dataset must be available
• Functional validation of clinical or biological inferences obtained from “-omics” results, e.g. by
  • developing new computational, statistical and experimental methods for analysis and interpretation of existing multi-omic datasets or for the identification of relevant biomarkers;
  • integrating the already obtained “-omics” results to generate and test new biological models;

• Application of “-omics” approaches to rare diseases for which the gene(s) is/are known to enable insight into disease pathophysiology. Emphasis will be given to approaches that transcend a single “-omics” approach to illuminate pathomechanism. Projects that generate “-omics” data with limited integration and interpretation will be considered lower priority;

• Development and application of concepts and methods for pathogenic read-outs of disease groups which can be used as “blue print” to discover new disease genes and inform pathomechanism. Projects on“simple” or “pure” gene hunts will be discouraged if they can be rationally performed at a single institution or by existing international resource centers, with the exception of studies that inform fundamentally new genetic paradigms.