FRRB is pleased to announce the publication of the new European Joint Programme for rare diseases - Joint Transnational Call (JTC 2022) “Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases”.
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 future benefit for patients.
Research proposals should cover at least one of the following areas:
1. 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.
2. Prognostic markers/biomarkers investigations for early diagnosis and monitoring.
3. Methodologies for solving cases that are currently difficult to analyse due to different underlying mechanisms (e.g., mosaicism, genomic (non-coding) alterations, gene regulation, complex inheritance), including new genomics / functional genomics technologies, multi-omics, mathematics, biostatistics, bioinformatics and artificial intelligence approaches.
4. 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).
5. Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.
FRRB, as Funding agency and partner of the project, invites Public or Private IRCCS (Scientific Institutes for Research, Hospitalization and Health Care), Public Health Care Providers (ASST), Universities and Research Institutes located on the Lombardy territory to present a project proposal.
For this Call FRRB has allocated a total budget of Euro 1.500.000,00.
More information on the official project page:www.ejprarediseases.org/joint-transnational-call-2022-announcement/
According to internal procedures, Regional Foundation for Biomedical Research (FRRB) will grant an eligibility clearance to the potential applicants prior to the submission of the pre-proposals.
Pre-eligibility documents can be downloaded from the official project page and on this page, in the "Download documents" section.
FRRB provides an excel sheet to help applicants abide by FRRB funding rules. This form is meant to support the PIs in the elaboration of the budget, but it does not need to be sent to FRRB