Call for Proposals 2026 pre-announcement

“Resolving unsolved cases in rare genetic and non-genetic diseases through variant validation and new technological approaches”

An information webinar will be held on December 16th, 2025, 15.00-16.00 (CET). Register to participate in the webinar here.

Preliminary Announcement

The content and procedures of the call described in this pre-announcement may be subject to change and are not legally binding.

The aim of the call is to tackle 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 lies in the future translation and use of the results to the benefit of patients.

The classification of RDs follows 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.

Accurately diagnosing RDs is a major challenge, with approximately 50% of individuals with a suspected of having 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 5 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. These unmet needs and challenges underpin the objectives of this call.

Call Topic

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.);
• 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, 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).

Excluded Diseases, Approaches and Topics

The following diseases, approaches and topics are excluded from the scope of the JTC 2026:

• Pre-clinical therapy development studies as covered in ERDERA JTC2025 topic;
• Interventional clinical trials to prove efficacy of drugs/treatments/surgical procedures/medical procedures. This includes studies comparing efficacy, e.g., two surgical techniques or therapies, and projects whose main objective is the implementation of a clinical phase IV pharmacovigilance study;
• Projects focusing only on rare diseases that are within the focus of Brain Health Partnership (https://www.brainhealth-partnership.eu/jtcs-2026/). These are: Alzheimer’s disease and other dementias; Parkinson’s disease (PD) and PD-related disorders; prion diseases; motor neuron diseases; Huntington’s disease; spinal muscular atrophy and dominant forms of spinocerebellar ataxia. However, childhood dementias/neurodegenerative diseases are eligible;
• Rare infectious diseases, rare cancers and rare adverse drug events in treatments of common diseases. Rare diseases with a predisposition to cancer are eligible. Therefore, diseases with inborn errors of immunity/genetic predisposition to rare infectious diseases are eligible.

Categories of Partners

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 organisations),
• Enterprises (all sizes of private companies). Participation of small and medium-sized enterprises (SMEs) is encouraged when allowed by national/regional regulations,
• Patient advocacy organisations (PAOs).

Consortium Makeup

Limit number of partners

Only transnational projects will be funded. Each consortium submitting a proposal must involve four to six eligible principal investigator partners from at least four different participating countries. In specific cases, the number of consortium partners can be increased to eight partners. No more than two eligible partners from the same country can be present in each consortium. Patient partners, requesting funding or not, do not count toward the total.

What is a partner? a collaborator? a sub-contractor?

To be considered as an eligible partner, a group must contribute substantially to at least one of the project’s work packages. If the only role of a group is to provide patient access, data or samples for the study, they will not be considered as partners of the consortium, but can be included otherwise, via cooperation agreements (as collaborators) or subcontracting.

Consortia may include collaborators who secure their own funding. Collaborators cannot be work package leaders, and their contribution to the consortium must be described. As they do not receive funding as part of this call, they do not count toward the limit of 8 partners requesting research funding (nor is there a limit of collaborators per country, if their participation is justified). Collaborators must supply a letter of intent, CV (only at the full proposal stage), which must be entered into the online submission system.

If necessary, to implement the research activity, consortia may also include subcontractors if allowed by their country/regional regulations. Sub-contractors may cover only a limited part of the research activity, and their contribution to the consortium must be described. They do not count toward the limit of 8 partners requesting research funding (nor is there a limit of subcontractors per country, if their participation is justified and if subcontracting is possible according to national/regional funding rules).

Consortium organisation

Each transnational proposal must nominate one project consortium coordinator among the project partner principal investigators. The coordinator must be an eligible project partner from an ERDERA JTC 2026 funding country/region. The project coordinator will represent the consortium externally to the JCS and to CSC, and will be responsible for its internal scientific coordination (such as management, reporting, and intellectual property rights issues). This workload should be considered in the requested budget estimate of the coordinator. A single principal investigator will represent each project partner. Within a joint proposal, the principal investigator of each project partner will be the contact person for the relevant country/regional funding organisation.

Patient Advocacy Organisations and Patient Involvement/Partnership

From the start when preparing their proposals, consortia are expected to include and actively engage patient partners, i.e. patient representative (patients/caregivers/family members from a patient advocacy organisation (PAO) or from any other organised group if no patient organisation exists. For information on any PAOs or patients’ group dedicated to undiagnosed PLWRD, please see:

• EURORDIS;
• National alliances;
• Undiagnosed diseases Network;
• Association Sans Diagnostic et Unique;
• SWAN UK;
• NORD.

Please note that national/regional eligibility criteria, definitions and time limits might differ.

Preliminary Timetable

There will be a two-stage submission procedure for joint applications: pre-proposals and full proposals.

Call Timeline

Contact Information

For general questions regarding the joint call please contact the Joint Call Secretariat

French National Research Agency – (ANR)
Dr Florence Guillot (PhD)
Dr Charlotte Lehericy (PhD)
E-Mail: ERDERAcall@agencerecherche.fr

The content and procedures of the call described in this pre-announcement may be subject to change and are not legally binding.