Diagnostic characterisation of rare diseases

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.

For whom?
Masters PhD Postdoc Researcher

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.

Deadline 11 April 2017
Duration of the project Up to 5 years
Funding source European Commission - Horizon 2020 Societal Challenges
How much 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.
Eligibility criteria At least three legal entities. 
Each of the three must be established in a different EU Member State or Horizon 2020 associated country. 
All three legal entities must be independent of each other.
Published Feb. 11, 2016 12:29 PM - Last modified Oct. 14, 2016 10:11 AM