ERDERA JTC - 2026 (NCBR)

the goal of this call is to solve Undiagnosed Rare Genetic diseases and to address complex, multifactorial Rare Non-Genetic diseases by identifying causative variants in patients with no molecular diagnosis after prior genetic or genomic testing and providing diagnostic clarity for conditions of unknown or mixed pathogenesis. 

Suggested focus areas are: 

• Functional validation to classify variants of uncertain significance (VUS) and increase the diversity of functional genomics research, or validation of candidate VUS to improve outcomes for a broader range of patients using in silico, in vitro or animal model systems (e.g. CRISPR modified cells, iPSCs, organoids, etc.) while leveraging existing infrastructures such as biobanks and model repositories (e.g., EuroBioBank, RD-Connect) and ensuring compliance with obligations to make generated resources publicly available, including depositing new mouse models or cellular lines in recognized repositories in accordance with FAIR principles.; 
• Use of multi-omics or integrative methods (e.g. transcriptomics, epigenomics, etc.) to resolve ambiguous or complex variants; 
• New tools/methodologies not yet validated in clinical setting, including biostatistics, advanced bioinformatics, and mathematics approaches (e.g. variant effect predictors, Artificial Intelligence (AI)-based annotation platforms, etc.); 
• Systems biology and disease mechanism modelling; 
• Integration of clinical, environmental, lifestyle, and sensor-derived data; 
• Development of knowledge graphs or disease maps to link phenotypic and mechanistic insights; 
• Use of advanced AI and modelling tools (graph ML, probabilistic causal models).