Objective
Rare diseases, including inherited metabolic diseases (IMDs), affect ~5% of the global population, yet diagnosis often takes years, causing preventable morbidity. Many computational tools are either limited to structured phenotype inputs or operate as “black boxes” prone to errors. Within the ERC project, Avatar, we have developed ChatRD, an AI-assisted, fully transparent clinical decision support tool that suggests expert-level rare disease diagnoses from unstructured patient descriptions within seconds. However, ChatRD’s interactive web interface has been developed without stakeholder feedback, a requirement for suitability in daily clinical routine and end-user trust. Consequently, the overall goal of this project is to translate the current research prototype into a practical, clinically relevant tool, which is also aligned with regulatory requirements and market needs. We will achieve this by first gathering, synthesising, and prioritising end-user feedback through a structured engagement strategy across three tiers: direct involvement of expert clinicians, broader clinical engagement through interactive in-person workshops, and large-scale online consultations. We will focus on system usability, content relevance, user interaction, and healthcare workflow integration. Iterative refinements will be guided by ranked stakeholder priorities. Finally, we will prepare for post-PoC deployment by validating the resulting ChatRD2.0 through additional stakeholder review and consolidating a roadmap for clinical readiness, scaling, and technology valorisation. The work will be carried out by a highly experienced team combining clinical, technical, and translational expertise. This PoC will de-risk future deployment by demonstrating real-world usability and relevance, with potential to significantly shorten diagnostic timelines for rare disease and IMD patients and reduce healthcare system burden.
Fields of science (EuroSciVoc)
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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HORIZON.1.1 - European Research Council (ERC)
MAIN PROGRAMME
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Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
HORIZON-ERC-POC - HORIZON ERC Proof of Concept Grants
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Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
(opens in new window) ERC-2026-POC
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Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.
H91 Galway
Ireland
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.