Research & Innovation - Participant Portal

TOPIC : Diagnostic characterisation of rare diseases

Topic identifier: SC1-PM-03-2017
Publication date: 14 October 2015

Types of action: RIA Research and Innovation action
DeadlineModel:
Planned opening date:
single-stage
29 July 2016
Deadline: 11 April 2017 17:00:00

Time Zone : (Brussels time)
  Horizon 2020 H2020 website
Pillar: Societal Challenges
Work Programme Year: H2020-2016-2017
Topic Description
Specific Challenge:

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.

Topic conditions and documents

Please read carefully all provisions below before the preparation of your application.
 

  1. List of countries and applicable rules for funding: described in part A of the General Annexes of the General Work Programme.
    Note also that a number of non-EU/non-Associated Countries that are not automatically eligible for funding have made specific provisions for making funding available for their participants in some Horizon 2020 topics (to check funding conditions, follow the links to Australia, Brazil, Canada, ChinaHong Kong & Macau, IndiaJapan, Republic of Korea, Mexico, Russia, Taiwan, USA*).
    *Note that US participants in projects under the Horizon 2020 "Health, Demographic Change and Wellbeing" Societal Challenge are automatically eligible for EU-funding according to the provisions in the relevant work programme

     
  2. Eligibility and admissibility conditions: described in part B and C of the General Annexes of the General Work Programme.

    Proposal page limits and layout: Please refer to Part B of the standard proposal template.

     
  3. Evaluation

    3.1  Evaluation criteria and procedure, scoring and threshold: described in part H of the General Annexes of the General Work Programme, with the following exceptions: The thresholds for each criterion in a single stage process will be 4, 4 and 3. The cumulative threshold will be 12.

    3.2 Submission and evaluation process: Guide to the submission and evaluation process

          
  4. Indicative timetable for evaluation and grant agreement:

    Information on the outcome of single-stage evaluation: maximum 5 months from the deadline for submission.
    Signature of grant agreements: maximum 8 months from the deadline for submission.

     
  5. Provisions, proposal templates and evaluation forms for the type(s) of action(s) under this topic:

    Research and Innovation Action:

    Specific provisions and funding rates
    Standard proposal template
    Specific evaluation form
    H2020 General MGA -Multi-Beneficiary
    Annotated Grant Agreement

     
  6. Additional provisions:

    Horizon 2020 budget flexibility

    Classified information

     
  7. Open access must be granted to all scientific publications resulting from Horizon 2020 actions, and proposals must refer to measures envisaged. Where relevant, proposals should also provide information on how the participants will manage the research data generated and/or collected during the project, such as details on what types of data the project will generate, whether and how this data will be exploited or made accessible for verification and re-use, and how it will be curated and preserved.

     
  8. Additional documents:

    H2020 Work Programme 2016-17: Health, demographic change and wellbeing

    H2020 Work Programme 2016-17: Dissemination, Exploitation and Evaluation

    H2020 Work Programme 2016-17: General Annexes

    Legal basis: Horizon 2020 - Regulation of Establishment

    Legal basis: Horizon 2020 Rules for Participation

    Legal basis: Horizon 2020 Specific Programme

 

Additional documents

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(EN only, incl. the additional docs.)

  • Essential information for clinical studies en
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