International Cooperation

EJP RD – European Joint Programme on Rare Diseases

FCT participates in the EJP RD – European Joint Programme on Rare Diseases that brings together over 130 institutions from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care, and medical innovation. Portugal is also represented in this programme by the Ministry of Health through the Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA).

The Recommendation 2009/C 151/02 from the Council of the European Union recognised rare diseases (RD) as a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly, to decrease unnecessary hardship and prolonged suffering of RD patients.

In a time of massive generation of data, need for the reuse and efficient interpretation of data, introduction of omics into care practice, and structuration of RD care centres in European Reference Networks, it is crucial and timely to maximize the potential of already funded tools and programmes by supporting them further, scaling them up, linking, and most importantly, adapting them to the needs of end-users through implementation tests in real settings. To achieve this goal, the European Joint Programme on RD (EJP RD) has two major objectives:

To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe/world-wide sharing of research and clinical data, materials, processes, knowledge and know-how;
To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients.

To this end, the EJP RD is organised in four major Pillars assisted by the central coordination and transversal activities:

Pillar 1: Funding of research
Pillar 2: Coordinated access to data and services
Pillar 3: Capacity building
Pillar 4: Accelerated translation of research projects and improvement outcomes of clinical studies

Results and funding granted

As part of Pillar 1, three Joint Transnational Calls (JTC), co-funded with the European Commission, to fund Collaborative and multidisciplinary Research projects on rare diseases, were already organised (JTCs of 2019, 2020 and 2021, which did not have the participation of FCT). The projects with the participation of Portuguese researchers funded by FCT are presented below.

Joint Transnational Call 2020

Funding granted by FCT
- Title of the project: ProDGNE: Novel therapeutic approaches to target GNE Myopathy
- Participating countries: Portugal, Canada, Italy, Germany
- Coordination: Paula Alexandra Quintela Videira, Nova University Lisbon
- Financing granted by FCT: 250,000.00€ (two hundred and fifty thousand euros)

Joint Transnational Call 2019

Funding granted by FCT
- Title of the project: EURDYSCOVER: Pathophysiology of dystonia – role of gene-environment interaction and common pathophysiological pathways
- Participating countries: Portugal, Germany, Italy, Czech Republic, France
- Coordination: Jens Volkmann, University Hospital of Wuerzburg (Germany)
- Portuguese researcher: Albino Jorge Carvalho de Sousa Oliveira Maia, Champalimaud Foundation
- Financing granted by FCT: 148,455.00€ (one hundred and forty-eight thousand, four hundred and fifty-five euros)
- Title of the project: NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy
- Participating countries: Portugal, Netherlands, Italy, Germany, France
- Coordination: Heine Vivi, VU University Medical Center (Netherlands)
- Portuguese researcher: Mónica M. Sousa, Institute for Molecular and Cell Biology (IBMC/UP)
- Funding granted by FCT: 150,000.00€ (one hundred and fifty thousand euros)
- Title of the project: TARID: Thymic Abnormalities in Rare Immunological Diseases
- Participating countries: Portugal, Finland, Estonia, France
- Coordination: Eliisa Kekäläinen, University of Helsinki (Finland)
- Portuguese researcher: Luís Ricardo Silva Graça, Instituto de Medicina Molecular João lobo Antunes (IMM/FM/ULisboa)
- Funding granted by FCT: 150,000.00€ (one hundred and fifty thousand euros)
- Title of the project: PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure
- Participating countries: Portugal, Canada, France, Italy, Germany
- Coordination: Monzur Murshed, McGill University (Canada)
- Portuguese researcher: Leonor Cancela, Centre of Marine Sciences (CCMar)
- Funding granted by the FCT: €134,340.00 (one hundred and thirty-four thousand, three hundred and forty euros)