The Health Research Board (HRB) is participating in the ERDERA Joint Transnational Call 2026 to support Irish researchers to engage in transnational collaborative research in the field of rare diseases under the call entitled “Resolving unsolved cases in rare genetic and non-genetic diseases through variant validation and new technological approaches.”
ERDERA is a European Partnership that has been established to further help in coordinating the research efforts of European, Associated and non-European countries in the field of rare diseases and implement the objectives of the International Rare Disease Research Consortium (IRDiRC). These actions follow the five Joint Transnational Calls for rare diseases research projects launched previously by the European Joint Programme on Rare Diseases (EJP RD) since 2019.
The call is expected to launch 10 December 2025 with a closing date of 12 February 2026 for pre-proposals. An information webinar will be held on 16 December 2025, 14:00-16:00 (GMT). Register to participate in the webinar.
The aim of this call is to tackle rare disease (RD) patient-need led challenges and enable scientists to build, based on common interests and sharing of expertise, effective, multinational, interdisciplinary research collaborations. The expected impact is the future use of the results to benefit patients.
The classification of RD follows the European definition, i.e. a disease affecting not more than five in 10,000 persons.
Accurately diagnosing RDs is a major challenge, with approximately 50% of individuals with a suspected rare genetic condition remaining undiagnosed or misdiagnosed despite standard clinical genetics care. In addition, RDs of non-genetic origin estimated to account for about 10% of all RD cases, remain an under-investigated area. On average, it takes around five years to establish an accurate diagnosis for people living with a RD (PLWRD). Given the complexity of these disorders, multiple and complementary diagnostic approaches are required. This complexity underpins the objectives of this call.
Topics List:
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.
Research proposals should cover at least one of the following focus areas:
- Functional validation to classify variants of uncertain significance 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.)
- 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 settings, including biostatistics, advanced bioinformatics, and mathematics approaches (e.g. variant effect predictors, 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).
For further information on the upcoming call, please refer to the ERDERA JTC2026 preannouncement.
Contact us
Dr Aisling Rehill
Email: HRB-JTCs@hrb.ie