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PRBB-CRG Sessions Joana Loizou

PRBB-CRG Sessions Joana Loizou

04/10/2019
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PRBB-CRG Sessions Joana Loizou

MARIE CURIE

04/10/201912:00MARIE CURIEPRBB-CRG SessionsJoana LoizouResearch Center for Molecular Medicine of the Austrian Academy of Sciences, AT"Safeguarding the integrity of the human genome"Host: Sara Sdelci (CRG)Abstract:The human genome is constantly exposed to endogenous and exogenous sources of DNA damage. DNA repair pathways ensure that all resulting damage is efficiently removed hence maintaining the integrity of large eukaryotic genomes, by minimising the mutation rate. This is achieved through several highly effective pathways for DNA repair with distinct specificities, despite partial redundancies. The importance of these pathways is highlighted by the fact that somatic or germline mutations within DNA repair genes contribute to cancer, as well as other diseases. I will present how the loss of functional DNA repair pathways, can lead to diseases associated with genomic instability. Moreover, I will discuss how DNA damage and repair processes can produce distinct mutation patterns, known as mutation signatures, on the genome that lead to tumourigenesis.