CFPs: “Resolving Unsolved Cases in Rare Genetic and Non-Genetic Diseases”

The European Rare Diseases Research Alliance (ERDERA) is inviting multinational research consortia to apply for funding to improve diagnosis of rare diseases, with a strong focus on undiagnosed rare genetic and complex rare non-genetic conditions. The call supports interdisciplinary, patient-need led diagnostic research using functional genomics, multi-omics, systems biology, and AI-based approaches, with funding of up to €300,000 per project for up to three years.

The European Rare Diseases Research Alliance is launching a competitive funding call to address critical diagnostic gaps in rare diseases through multinational, interdisciplinary research collaborations. The call prioritises patient-centred research that improves diagnostic accuracy, clarifies disease mechanisms, and enables future translation of results into clinical and public health practice.

Purpose of the Funding Call

The primary goal of this call is to improve diagnosis for patients affected by rare diseases who remain without a clear molecular or clinical explanation after standard testing. The initiative targets both undiagnosed rare genetic diseases and complex, multifactorial rare non-genetic diseases, supporting research that delivers diagnostic clarity and actionable knowledge for patients and health systems.

Key Research Challenges Addressed

The call focuses on solving long-standing diagnostic challenges, particularly in patients who have undergone prior genetic or genomic testing without a definitive diagnosis. Research is expected to identify causative variants, clarify disease mechanisms, and address conditions with unknown or mixed pathogenesis.

Scientific Scope and Research Focus Areas

Funded projects must concentrate on diagnostic research and may include the following areas.
• Functional validation of variants of uncertain significance (VUS)
• Multi-omics and integrative approaches to resolve complex genetic findings
• Systems biology and disease mechanism modelling
• Development of advanced bioinformatics, biostatistics, and AI-based diagnostic tools
• Integration of clinical data with real-world data sources
• Creation of knowledge graphs and AI models linking phenotypes to molecular mechanisms

Focus on Rare Non-Genetic Diseases

The call highlights rare non-genetic diseases as an under-investigated but critical area of rare disease research. These conditions account for approximately 10% of all rare disease cases and often require complementary diagnostic strategies beyond standard genomic approaches.

What Is Explicitly Out of Scope

Projects must not include therapeutic development or interventional research. The following activities are excluded.
• Pre-clinical therapy development
• Interventional clinical trials
• Rare infectious diseases
• Rare cancers
• Specific adult neurodegenerative disorders

Patient Involvement Requirements

A strong and mandatory emphasis is placed on patient partnership.
• Each consortium must include at least one patient partner from a patient advocacy organisation or organised patient group
• Patient partners must be involved throughout the research lifecycle, including priority setting, study design, governance, and dissemination
• Dedicated funding mechanisms are available to support meaningful patient participation

Data Management and FAIR Principles

Projects must adhere to FAIR data principles, ensuring that all generated data are findable, accessible, interoperable, and reusable.
• Robust data management plans are required
• Use of existing infrastructures such as biobanks and model repositories is strongly encouraged
• Bioinformatics, statistical expertise, and data stewardship must be integral to project design

Who Can Apply?

Eligible applicants must form multinational consortia that include partners from the following sectors.
• Academia
• Clinical or public health institutions
• Enterprises or industry partners
• Patient advocacy organisations
Early Career Researchers are strongly encouraged to participate as independent research partners within consortia.

Funding Available

The call provides substantial support for diagnostic research projects.
• Maximum funding per project: €300,000
• Maximum project duration: 3 years
• Funding supports research, data generation, analysis, and patient involvement activities

Why This Call Matters

Delayed or missed diagnosis is one of the most significant unmet needs in rare diseases. By funding collaborative, patient-driven diagnostic research, this call aims to shorten diagnostic odysseys, improve clinical understanding, and lay the groundwork for future therapeutic and public health advances without duplicating existing intervention-focused funding schemes.

Application Process

The application follows a structured two-stage submission procedure.

1. Submission of a pre-proposal outlining the research concept and consortium

2. Invitation to submit a full proposal for selected applicants

3. Evaluation by scientific experts and patient reviewers

Evaluation Criteria

Proposals are assessed in line with Horizon Europe standards based on the following criteria.
• Scientific excellence
• Expected impact for patients and health systems
• Quality and efficiency of implementation, including consortium composition and management

Tips for a Strong Application

• Clearly demonstrate the unmet diagnostic need your project addresses
• Integrate patient partners meaningfully and early in the project design
• Show strong interdisciplinary collaboration and complementary expertise
• Present a clear plan for data integration, FAIR compliance, and future translation

Frequently Asked Questions (FAQ)

What is the main focus of this funding call?
The call supports diagnostic research for undiagnosed rare genetic diseases and complex rare non-genetic diseases.
How much funding can a project receive?
Projects can receive up to €300,000 for a maximum duration of three years.
Are patient organisations required to be part of the consortium?
Yes, at least one patient partner must be included and actively involved throughout the project.
Can Early Career Researchers apply?
Yes, Early Career Researchers are strongly encouraged to participate as independent research partners.
Are therapeutic or clinical trial projects eligible?
No, the call explicitly excludes pre-clinical therapy development and interventional clinical trials.
What type of review process is used?
Proposals are reviewed by both scientific experts and patient reviewers following Horizon Europe evaluation criteria.

Conclusion

The European Rare Diseases Research Alliance funding call represents a significant opportunity to advance diagnostic research for rare diseases through patient-centred, data-driven, and interdisciplinary collaboration. By focusing on undiagnosed and complex rare conditions, the call aims to deliver meaningful diagnostic breakthroughs that directly benefit patients and strengthen rare disease research capacity across Europe and beyond.