Appel à projets européen
2022 Joint Transnational Call for proposals
Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases
The main objective of this 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:
- 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 (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.
- 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.
Partners belonging to one of the following categories may request funding under a joint research proposal (according to country/regional regulations): academia (research teams working in universities, other higher education institutions or research institutes), clinical/public health sector (research teams working in hospitals/public health and/or other health care settings and health organizations), enterprises (all sizes of private companies) when allowed by national/regional regulations, patient advocacy organizations.
There will be a two-stage submission procedure for joint applications: pre-proposals (deadline : 16th February 2022) and full proposals (deadline : 15th June 2022). The maximum duration of the project is three years.
For any questions, please contact us firstname.lastname@example.org