Jan 04, 2022

JP Rare Diseases launches new Call!

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 expected impact to use the results in the future for benefit of patients. Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e. a disease affecting not more than five in 10.000 persons in the European Community, EC associated states and Canada.

Topic: Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases

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.

It is possible to use cellular and animal models for validation of the new diagnostic approaches in the subtopics listed above where relevant. Additional elements need to be considered in the application (see website).

Hard Facts:

Joint projects must include two – six PIs from at least three different funded countries
Maximum project duration of three years
14.12.2021 - Call opening
16.12.2021 – Information webinar for potential applicants
16.02.2022 - Deadline for pre-proposal
15.06.2022 - Deadline for full-proposal