Objective
Telomere dysfunction can result in cells being eliminated by apoptosis, entering senescence, or undergoing malignant transformation. Symptoms associated with telomeropathies include bone marrow failure, idiopathic pulmonary fibrosis, liver disease, and defects of the immune system, skin, eyes, and skeleton. Patients with telomeropathies are typically managed based on their clinical presentation. Treatment options for various manifestations may include growth factor support, bone marrow transplantation, antifibrotic medications, or organ transplantation. All these approaches improve the symptoms of specific sequelae rather than treating the biological cause of the disease. We propose that by intervening at its inception and “rebalancing” or restoring telomere function we may ameliorate the disease process.
The overarching hypothesis of our proposed research is that by defining disease-associated cell phenotype regulators, i.e. “rebalancing factors”, and the complete compendium of disease-causing alleles, we will elucidate the underlying biology of these conditions and potentially a path to therapy. To test this hypothesis, we need to identify genes that can rescue telomere dysfunction, define the mechanistic basis of rebalancing, and define the functional impact of all genetic variants linked to telomeropathies. To accomplish these objectives, we will i) use nanoseq sequencing to examine somatic genetic rescue in tissues from unique telomeropathy patient cohorts, ii) investigate how the rebalancing factors we identify influence cell behaviour and telomere homeostasis in cell and animal models, and iii) use saturation prime editing combined with functional screens to systematically assess the phenotypes associated with all possible variants in genes linked to telomeropathies. As a result of this work, we hope to revolutionise our understanding of telomeropathies and help patients live longer and healthier lives.
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Keywords
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Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
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)
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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
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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 - HORIZON ERC Grants
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Call for proposal
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Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
(opens in new window) ERC-2025-ADG
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CB10 1SA SAFFRON WALDEN
United Kingdom
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