Transnational research projects to accelerate diagnosis and/or explore 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:
a. 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 bioinformatic tools.
b. 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.