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or Functional Validation in the Context of Rare Diseases;
Deutsche Forschungsgemeinschaft (DFG)
The Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) as a partner of the ERA-Net for Research Programmes on Rare Diseases (E-Rare) is pleased to announce the 2018 call for proposals on "Transnational Research Projects on Hypothesis-driven Use of Multi-omic Integrated Approaches for Discovery of Disease Causes and/or Functional Validation in the Context of Rare Diseases".
The ERA-Net for research programmes on rare diseases (E-Rare) has been launched to further help in coordinating the research efforts of European countries in the field of rare diseases and implement the objectives of International Rare Disease Research Consortium (IRDiRC). The DFG is a funding partner among 21 parties that have decided to open the 10th E-Rare joint transnational call (JTC 2018) for funding multinational research projects on rare diseases.
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 of this call have to focus on hypothesis-driven use of multi-omic integrated approaches for discovery of disease causes and/or on 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:
o 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;
o 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;
o 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 pathomechanisms. Projects that generate "-omics" data with limited integration and interpretation will be considered lower priority;
o 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 about pathomechanisms. 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 about fundamentally new genetic paradigms.
Furthermore, additional elements must be taken care of in the application:
o proposed projects should rest on an excellent lead hypothesis for the intended activities;
o proposed projects that focus only on data sets from genomic approaches (e.g. exome/genome sequencing of a cohort) will have low priority;
o proposed projects have to show multi-dimensional approaches and strong knowledge of interpretation of such data, ideally combining rigorous statistic methods with biological/experimental verification;
o a core set of "-omics" results should already be present and serve as a justification to perform other "-omics" experiments;
o the design of the study (sample collection, statistical power, interpretation, relevant models for hypothesis validation) must be well justified and should be part of the proposal;
o appropriate bioinformatics and statistical skills should constitute, whenever justified, an integral part of the proposal;
o the new research data resulting from the project should be treated permissible according to the FAIR principles, and deposited and shared, according to the national rules of the countries involved. It is strongly advised to make data accessible through RD-Connect
o approaches concerning rare infectious diseases or rare cancers;
o approaches concerning rare adverse drug events/medical complications in treatments of common diseases;
o interventional clinical trials
Project proposals must clearly demonstrate the potential health impact as well as the added-value of transnational collaboration: gathering a critical mass of patients/biological material, sharing of resources (models, databases, diagnosis etc.), harmonisation of data, sharing of specific know-how and/or innovative technologies, etc.
Each transnational collaborative project should represent the critical mass to achieve ambitious scientific goals. Consortia are encouraged to demonstrate engagement with industry for its active participation including areas of collaboration, sharing of resources, capabilities and expertise, in order to ensure an efficient transfer of pre-clinical results into clinical utility. Likewise, patient organisations are invited to participate where appropriate as their engagement has the potential to provide new insights that could lead to innovative discoveries, and ensures that research is relevant to patients' concerns.
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