Rare diseases are diseases which affect not more than 5 per 10 000 persons in the European Union. It is estimated that rare diseases encompass between 6 000 and 8 000 different entities which affect altogether more than 30 million people in the EU. However, patient populations for individual rare diseases are small and dispersed, which makes international collaboration crucial. Despite the recent advances in understanding the molecular pathogenesis of these diseases, today many rare diseases still lack means of molecular diagnosis. An accurate molecular diagnosis is an essential starting point for the understanding of mechanisms leading to diseases as well as for adequate patient management and family counselling and it paves the way for therapy development.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.Expected Impact:
Providing better and faster means of high quality and clinical utility for the correct diagnosis of undiagnosed rare diseases for which there is no or unsatisfactory diagnosis available.
• Contribute towards the IRDiRC objectives.
• Foster dissemination of scientific results and knowledge exchange between stakeholders.
• Develop knowledge management strategies, with the view of facilitating models of care and access to the data gathered.
• Providing better knowledge for improved family counselling as well as to improve follow-up for patients and research initiatives.
• Gather a big number of patients with similar phenotypes to facilitate match making, to avoid duplication and to unravel a considerable number of diagnoses.
• Pave the way to the development of new therapies and for a better treatment outcome in rare disease patients.