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:
Opening date:
single-stage
28 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 Updates
  • 13 January 2017 09:41

     Please note that Switzerland is now officially associated to the Horizon SC1 as well. Swiss participants are therefore eligible to receive Horizon 2020 SC1 support. Please see details in the note here.

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.

Cross-cutting Priorities:

Gender
International cooperation

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, BrazilCanada, 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

    Essential information for clinical studies

     
  6. Additional provisions:

    Horizon 2020 budget flexibility

    Classified information

     
  7. Open access must be granted to all scientific publications resulting from Horizon 2020 actions.

    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.

    Open access to research data
    The Open Research Data Pilot has been extended to cover all Horizon 2020 topics for which the submission is opened on 26 July 2016 or later. Projects funded under this topic will therefore by default provide open access to the research data they generate, except if they decide to opt-out under the conditions described in annex L of the Work Programme. Projects can opt-out at any stage, that is both before and after the grant signature.

    Note that the evaluation phase proposals will not be evaluated more favourably because they plan to open or share their data, and will not be penalised for opting out.

    Open research data sharing applies to the data needed to validate the results presented in scientific publications. Additionally, projects can choose to make other data available open access and need to describe their approach in a Data Management Plan.

    - Projects need to create a Data Management Plan (DMP), except if they opt-out of making their research data open access. A first version of the DMP must be provided as an early deliverable within six months of the project and should be updated during the project as appropriate. The Commission already provides guidance documents, including a template for DMPs.

    - Eligibility of costs: costs related to data management and data sharing are eligible for reimbursement during the project duration.

    The legal requirements for projects participating in this pilot are in the article 29.3 of the Model Grant Agreement.


     

  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.)

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