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The group focuses on genetic disorders characterized by a high predisposition to cancer, many of which are caused by mutations in DNA repair genes. These genes play a fundamental role in preventing tumour development. Research into these syndromes is essential not only to improve diagnosis and treatment but also to better understand the mechanisms that protect against cancer.
In recent years, the team has identified and studied new genes involved in these syndromes and has promoted therapeutic research that has led to two orphan drug designations granted by the European Medicines Agency, as well as several academic clinical trials, including gene therapy and drug repurposing strategies.
The group also investigates DNA repair genes as potential therapeutic targets to selectively induce tumour cell death through the concept of synthetic lethality. The growing understanding of the genetic basis of...