Scope: The aim of this research should be to apply genomics and/or other –omics and/or other high-throughput approaches for the molecular characterisation of rare diseases in view of developing molecular diagnoses for a large number of undiagnosed rare diseases. Undiagnosed rare diseases may range from a group of unnamed disorders with common characteristics to a phenotypically well described disease or group of diseases with an unknown molecular basis. Genetic variability due to geographical distribution and/or different ethnicity should be taken into account as well as genotype-phenotype correlation whenever applicable. In addition, age, sex and gender aspects should be included where appropriate. This large-scale proposal should promote common standards and terminologies for rare disease classification and support appropriate bioinformatics tools and incentives to facilitate data sharing. Existing resources should be used for depositing data generated by this proposal. Molecular and/or functional characterisation may be part of the proposal to confirm diagnosis. The proposal should enable and foster scientific exchange between stakeholders from countries and regions with different practices and strategies of rare disease diagnostics. The selected proposal shall contribute to the objectives of, and follow the guidelines and policies of the International Rare Diseases Research Consortium IRDiRC (www.irdirc.org). The Commission considers that requesting a contribution from the EU of around EUR 15 million would allow this specific challenge to be addressed appropriately. Nonetheless, this does not preclude submission and selection of a proposal requesting other amounts.
Entidad Financiadora: H2020
Plazo de Presentación: 11/04/2017