CORDIS Project
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This project investigates the role of telomeres and the enzyme telomerase in maintaining chromosome integrity. It focuses on understanding how mutations in the RTEL1 helicase affect telomere function, which is crucial for preventing diseases like Dyskeratosis Congenita and cancer.
Telomeres are specialised nucleoprotein structures that protect chromosome ends from degradation and promiscuous DNA repair activities.
Critically short telomeres give rise to Dyskeratosis Congenita and Hoyeraal-Hreidarrson Syndrome (HHS), highlighting the clinical importance of maintaining telomeres.
Telomeres also progressively shorten with each cell division, eventually triggering cellular senescence.
Although telomerase is able to extend telomeres to solve the “end replication problem”, its…
THE FRANCIS CRICK INSTITUTE LIMITED
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