CORDIS Project
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This project investigates Hoyeraal-Hreidarsson syndrome by characterizing mutations in the RTEL1 gene, which is crucial for maintaining genomic stability. The research aims to understand how these mutations affect RTEL1 function using both in vitro and in vivo models.
Hoyeraal-Hreidarsson syndrome (HHS) is a multisystem disorder with patients presenting inter-uterine growth retardation, immunodeficiency, and/or aplastic anaemia.
Recently, mutations in RTEL1 have been shown to be causal for this disease. RTEL1 prevents genomic instability and maintains integrity of the telomeres by disassembling different secondary structures that arise during DNA replication, repair, and recombination.Although recent discoveries from the host lab and others have shed light on…
THE FRANCIS CRICK INSTITUTE LIMITED
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