Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases EJP RD 2022

The 4th call for projects of EJP RD to fund multinational research projects on rare diseases will gather 21 countries (Australia, Austria, Belgium, Canada, Czech Republic, Finland, France, Germany, Hungary, Ireland, Israël, Italia, Lithuania, Luxemburg, the Netherlands, Poland, Slovakia, Sweden, Spain, Switzerland, Turkey).

Research proposals should cover at least one of the following areas:

Phenotype-driven diagnosis: integration across different ontologies, integration of shared pathways, digital phenotyping, development of artificial intelligence approaches/applications to extract health related data in aid of diagnosis;

Prognostic markers/biomarkers investigations for early diagnosis and monitoring;  Methodologies for solving cases that are currently difficult to analyze due to different underlying mechanisms, including new genomics / functional genomics technologies, multi-omics, mathematics, biostatistics, bioinformatics and artificial intelligence approaches.  
Functional strategies to globally stratify variants of unknown significance (VUS) for clinical use; setting up of (in vitro) systems to distinguish between VUS and pathogenic variants (e.g., confirming disruption of splicing for deep intronic variants, loss of protein function, and gain of toxic protein function); 

Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.
It is possible to use cellular and animal models for validation of the new diagnostic approaches in the subtopics listed above where relevant.

Only transnational projects will be funded. Each consortium submitting a proposal must involve 4 to 6 eligible principal investigator partners from at least 4 different participating countries. In specific cases this can be increased to 8 partners (inclusion of a partner from an underrepresented country or an early career researcher). No more than two eligible partners from the same country can be present in each consortium.