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Appel transnational conjoint E-Rare-3 (2015) : Projets de recherche transnationaux sur les maladies rares

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Genome Canada is pleased to announce our partnership with the ERA-NET consortium “E-Rare-3” and participation in the 2015 "European Research Projects on Rare Diseases" Joint Transnational Call:


We are also pleased to be working with CIHR, Fonds de recherche du Québec – Santé and our Voluntary Health Organization partners, Ataxia of Charlevoix-Saguenay Foundation, Cystic Fibrosis Canada and Muscular Dystrophy Canada, to maximize Canadian participation in this exciting initiative that complements our efforts to support and advance rare diseases research.

Our joint participation in this program will provide Canadian investigators the opportunity to work with their European colleagues to build interdisciplinary, multilateral research projects leveraging complementarities and sharing of expertise as well as resources, with a focus on translational research. The successful projects, aligned with the International Rare Diseases Research Consortium (IRDiRC) (www.irdirc.org) objectives, will collectively aim to achieve its ambitious goal of delivering, by 2020, 200 new therapies for rare diseases and diagnostic tests for all rare diseases.

There are at least 6,000 to 7,000 distinct rare diseases, the great majority being of genetic origin. Although individually rare, taken together rare diseases affect at least 26-30 million people in Europe. In Canada, 1 in 12 Canadians have a rare disorder. Moreover, they represent a major issue in health care: a large number of these diseases lead to a significant decrease of life expectancy and most of them cause chronic illnesses with a large impact on quality of life and the health care system.

Research on rare diseases is needed to provide knowledge for prevention, diagnosis and better care for patients. Yet, this research is hampered by a lack of resources at several levels. Leveraging resources and coordinating research efforts are key elements for success in the rare diseases field. Rare diseases is a research area that can strongly benefit from collaboration on a transnational scale due to the limited number of patients and difficulty to gather the necessary cohorts due to the scattering of patients over large geographic areas, scarcity of knowledge and expertise, and requirement for cooperative and interdisciplinary approaches to study complex clinical phenotypes.

Objectives of the JTC

For more information, please consult the E-Rare JTC 2015 – Call text and guidelines for applicants

The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e., a disease affecting not more than five in 10,000 persons in the European Community, EC associated states and Canada.

Transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:

  1. Collaborative research using patient databases and corresponding collections of biological material that would generally not be possible at a national scale. This research must have clear potential for clinical application and well defined scientific objectives, e.g.:

    • definition of new nosological entities, epidemiological studies, genotype/phenotype correlations, natural history of diseases;

    • characterisation of the genetic/molecular basis of specific diseases

  2. Research on rare diseases including genetic, epigenetic, and pathophysiological studies, using innovative and shared resources, technologies (OMICS, new generation sequencing, etc.) and expertise.

  3. Research on development of applications for diagnosis and therapies for rare diseases. This may include identification and characterisation of (bio)-markers for diagnosis and prognosis, development of innovative screening systems and diagnostic tools, the generation of relevant cellular and/or animal models, and preclinical studies using pharmacological, gene or cell therapies.

Project proposals must clearly demonstrate the potential health impact as well as the added-value of transnational collaboration: gathering a critical mass of patients/biological material, sharing of resources (models, databases, diagnosis etc.), harmonisation of data, sharing of specific know-how and/or innovative technologies, etc.

Each transnational collaborative project should represent the critical mass to achieve ambitious scientific goals and should clearly demonstrate an added value from working together. Applicants are encouraged to demonstrate engagement with industry for its active participation including areas of collaboration, sharing of resources, capabilities and expertise, in order to ensure an efficient transfer of pre-clinical results into clinical utility. Likewise, patient organizations are invited to participate where appropriate as their engagement has the potential to provide new insights that could lead to innovative discoveries, and ensures that research is relevant to patients' concerns.

It is expected that the inclusion of partner groups from participating Eastern European countries will contribute to strengthening the research capacity building in Europe as a whole.

The aim of the call is aligned with the goals set by IRDiRC which fosters international collaboration in rare diseases research. For more information see the IRDiRC website (www.irdirc.org).

The following diseases/topics are excluded from the scope of the call:

  • Interventional clinical trials;

  • Rare infectious diseases, rare cancers and rare adverse drug events in treatments of common diseases; and

  • Rare neurodegenerative diseases which are within the focus of the Joint Programming Initiative on Neurodegenerative Disease Research (JPND) (WSC: www.neurodegenerationresearch.eu). These concern: Alzheimer’s disease (AD) and other dementias; Parkinson’s disease (PD) and PD-related disorders; Prion disease; Motor neuron diseases (MND); Huntington’s Disease (HD); Spinal muscular atrophy (SMA) and dominant forms of Spinocerebellar ataxia (SCA).

Funds Available

  • The total amount available for this funding opportunity from all Canadian funding sources is up to a maximum of $ 3,855,000 CAD, which can fund approximately 8-10 projects. This amount may increase if additional funding partners are identified. The maximum amount per research project per year is $ 150,000, including equipment, for up to three years.

  • Approved funding opportunities may receive an across-the-board cut to the budget, if necessary, to maximize the number of funded research projects.

Of this $3,855,000 CAD:

  • Up-to $1,500,000 is available from CIHR-IG for eligible teams from Canada as outlined in the JTC 2015

  • Up-to $1,000,000 is available to fund applications focused on genomics and relevant to the mandate of Genome Canada as outlined in the JTC 2015

  • Up-to $500,000 is available from the Fonds de recherche du Québec - Santé (FRQS) to support teams from Quebec as outlined in the JTC 2015

  • Up-to $450,000 is available to fund applications relevant to the mandate/research priorities of the Ataxia of Charlevoix-Saguenay Foundation

  • Up-to $105,000 is available to fund applications relevant to the mandate/research priorities of Cystic Fibrosis Canada

  • Up-to $300,000 is available to fund applications relevant to the mandate/research priorities of Muscular Dystrophy Canada

The Canadian partners’ financial contributions for this initiative are subject to availability of funds. Should funding levels not be available or are decreased due to unforeseen circumstances, the partners reserve the right to reduce, defer or suspend financial contributions to grants received as a result of this funding opportunity.


Only transnational projects will be funded. Each proposal must involve a minimum of three eligible and a maximum of six eligible research groups from at least three different countries participating to the call. No more than two eligible applicants from the same country participating in the call will be accepted in one proposal. Applicants are encouraged to include partners from the participating Eastern European countries (Hungary, Latvia, Poland, Romania and Turkey). If they include such partners, the maximum number of partners can be increased to eight.

Additional partners that secure their own funding may join consortia. However, their number is limited to two. The consortium coordinator must always be eligible to receive funding from the funding organisations participating in the call. Only groups that contribute substantially to at least one of the work packages are considered as partners. They must state clearly in the proposal if these funds are already secured or if not, how they plan to obtain funding in advance of the project start. It will be required to document the availability of their funds before October 1, 2015.

Consortia of projects funded in previous E-Rare joint transnational calls can apply for funding for an extension of their cooperation. These consortia must clearly demonstrate the success of the current project and innovative scientific aims for their future collaboration. Their applications will compete with applications for new research projects.

Each transnational proposal must nominate a project consortium coordinator among the project partner principal investigators. The coordinator must be a project partner from an E-Rare-3 JTC 2015 funding country/region. The project coordinator will represent the consortium externally and towards the JCS and CSC, and will be responsible for its internal scientific management (such as controlling, reporting, intellectual property rights issues and contact with the Joint Call Secretariat). Each project partner will be represented by a single principal investigator. Within a joint proposal, the principal investigator of each project partner will be the contact person for the relevant country/regional funding organization.

If there are two Canadian teams involved in a consortium, one person must be named the Nominated Principal Applicant.

Eligibility criteria are the matter of individual funding organizations.

For Genome Canada’s eligibility information, please consult https://www.genomecanada.ca/sites/default/files/pdf/en/guidelines-funding-research-projects-june-2014.pdf

Applicants from other countries are strongly advised to contact their national funding organizations and confirm eligibility matters before submitting an application. For a complete overview of all eligibility requirements and a listing of national contacts, please consult the JTC 2015 guidelines to applicants http://www.erare.eu//joint-call/7th-joint-call-european-research-projects-rare-diseases-jtc-2015

Successful applicants will be informed of any special financial and reporting requirements prior to the release of funds.

Review Process and Evaluation

For more information concerning the review process and evaluation, please consult the JTC 2015

Relevance Review

CIHR-IG, Genome Canada, FRQS, ARSACS, CF Canada and MDC will provide funding for applications that are relevant to (in alignment with) the objectives and research priority areas described in the "Sponsors Section" of the JTC http://www.erare.eu//joint-call/7th-joint-call-european-research-projects-rare-diseases-jtc-2015

Application process

The application process for this funding opportunity is comprised of two steps: Pre-Application and Application.

Step 1 – Pre-application:

  • For more information, please consult the JTC 2015

Step 2 - Application:

  • Canadian applicants invited to submit a Full Application to the JTC 2015 must also complete a CIHR application and submit it through ResearchNet. The purpose of this additional application to CIHR is to provide CIHR with an Operating Budget for the project (with the amounts quoted in Canadian dollars, and a complete justification for funds requested) and a one page research summary

  • The deadline for submission of this application is the same as the Full Application deadline to the JTC. For more information about the Full Application submission to the Joint Call Secretariat, please consult the JTC 2015

  • To complete your Application, follow the instructions in the Grants - ResearchNet "Application" Phase Instructions along with any additional instructions found below under "Specific Instructions".

Submission Requirements

  • The CIHR Application Material should be submitted using ResearchNet. Prior to submitting your application, scan and upload the signed signature pages, including the routing slip, in the Print/Upload Signature Pages task in ResearchNet.

Contact Information

For questions on CIHR funding guidelines, how to apply, and the peer review process contact:

Olivier Jacob-Gravel
Program Delivery Coordinator, Strategic Initiatives Branch
Canadian Institutes of Health Research
Telephone: 613-952-5728
Email: [email protected]

For questions on Genome Canada’s guidelines for funding research projects contact:

Karen Dewar
Director, Genomics Programs
Genome Canada
Telephone: 613-751-4460 ext 211
Email: [email protected]

For questions about this initiative and research objectives contact:

Stephanie Robertson
Assistant Director, Institute of Genetics
Canadian Institutes of Health Research
Telephone: 613-954-0533
Email: [email protected]

Julie Edwards
Director, Corporate Development
Genome Canada
Telephone: 613-797-3209
Email: [email protected]

Anne-Cécile Desfaits
Director, Programs and Partnerships
Fonds de recherche du Québec – Santé
Telephone: 514-873-0463
Email: [email protected]

Jean Groleau
Cofounder and President
Ataxia of Charlevoix-Saguenay Foundation
Email: [email protected]

Joanna Valsamis
Program Director, Research Funding
Cystic Fibrosis Canada
Tel: 416-485-9149 ext. 230
Email: [email protected]

Marla Spiegel
National Director, Research, Programs and Services
Muscular Dystrophy Canada
Telephone: 416-488-0030 ext. 134
Email: [email protected]