Objective
Over 50 severe genetic disorders are caused by short tandem repeat (STR) expansions. Emerging evidence indicates that increased STR instability plays a critical role in their pathogenesis. However, current analysis tools can only determine basic STR length but not instability, severely limiting both therapeutic development and clinical care. Our project aims to commercialize innovative software that enables targeted and genome-wide quantification of STR instability, addressing urgent needs in drug development, clinical diagnostics, and research. Building on successful prototype development through our ERC Starting Grant TRANSIT-ND, we will transform our computational methods into a validated commercial product. Our solution combines novel filter-based algorithms with machine learning approaches to achieve superior accuracy and speed in STR analysis. Uniquely, it can quantify somatic instability - a crucial parameter for therapeutic development beyond the reach of existing tools. The project comprises comprehensive technical validation using large cohorts, matched tissue samples, and clinical cases. In parallel, we will develop market entry strategies, secure IP protection, and establish regulatory compliance pathways. Our dual-licensing model will serve both commercial users (pharmaceutical companies, clinical laboratories) and academic researchers. The market opportunity is substantial, driven by increasing investment in STR-targeting therapies and growing demand for comprehensive genetic testing. Our software will enable pharmaceutical companies to better evaluate therapeutic efficacy, help clinical laboratories identify at-risk individuals earlier, and accelerate research into novel pathogenic variants. The project will advance our technology from TRL 2 to TRL 4, positioning us for follow-on funding through EIC Transition. Success will substantially impact both therapeutic development for currently untreatable disorders and early detection of individuals at risk.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- medical and health sciences basic medicine pharmacology and pharmacy drug discovery
- natural sciences computer and information sciences software
- natural sciences computer and information sciences computational science
- natural sciences computer and information sciences artificial intelligence machine learning
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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.
53127 Bonn
Germany
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.