1st Joint transnational call for Proposals in the frame of European Joint Programme on Rare Diseases (EJP RD - JTC 2019) / 2019-2020

The E-RARE network, in which the Fonds de recherche du Québec – Santé (FRQS) is a partner, is launching a multilateral joint transnational call for proposals to support research in the field rare diseases.

The aim of the call is to enable scientists from 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.

More specifically, the research projects have to focus on accelerate diagnosis and/or disease progression and mechanisms of rare diseases.

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

Research to accelerate diagnosis, e.g:

• New schemes for finding diagnosis for undiagnosed patients;

• Improved annotation and interpretation of variants and development of diagnostic tests for the more prevalent variants;

• Novel modalities of functional analysis of candidate variants through in vitro, cell, tissue or animal studies;

• Omic or multi-omic integrated approaches for discovery of disease causes and mechanisms including development of relevant bioinformatics tools.

Research to explore disease progression and mechanisms, e.g:

• Natural history studies and patient registries (also for clinical trial readiness). Whenever possible these should include development and use of patient reported outcome measures. In addition, the exploration of the use of standardized M-Health-based surveillance instruments and of patient entered data to gather information for natural history studies is welcome;

• Identification of clinical biomarkers, clinical outcome measures and surrogate endpoints;

• Identification of novel pathophysiological pathways in appropriate disease models that effectively mimic the human condition.

The following approaches and topics are excluded from the scope of the call:

• Approaches concerning rare infectious diseases or rare cancers;

• Approaches concerning rare adverse drug events/medical complications in treatments of common diseases;

• Studies that focus on pre-clinical therapy development and/or validation in cellular or animal models. These will be addressed in future calls;

• Interventional clinical trials;

• Rare neurodegenerative diseases which are within the main focus of the Joint Programming Initiative on Neurodegenerative Disease Research:

(JPND; http://www.neurodegenerationresearch.eu/). These concern: Alzheimer’s disease and other dementias; Parkinson’s disease (PD) and PD-related disorders; Prion disease; Motor Neuron Diseases; Huntington’s disease; Spinal Muscular Atrophy and dominant forms of Spinocerebellar Ataxia. Interested researchers should refer to the relevant JPND calls. Not excluded through this specification are childhood dementias/neurodegenerative diseases.

For more information, please visit the E-RARE website.