ONCOHEMATOLOGIC DISEASES

Cancer predisposition and DNA repair syndromes

This research group works in the field of human genetics diseases characterized by a high predisposition to cancer.  Many of these syndromes are caused by mutations in DNA repair genes.

These genes are important to avoid the accumulation of mutations and prevent cancer transformation. Research on these syndromes is important to unravel the mechanisms that protect us from cancer.

In the past few years, the team has identified and studied a number of novel genes involved in such syndromes and performed therapeutic research leading to an orphan drug designation by the European Medicines Agency.

Their researchers are also involved in several clinical trials on gene therapy and drug repurposing and investigate DNA repair genes involved in these syndromes as therapeutic targets against cancer in the general population.

There are an increasing number of novel therapeutic strategies based on the deep knowledge of the genetic causes of the disease. Therefore, a proper genetic diagnosis is important not only to provide an adequate genetic counseling and clinical management to the patients and their families but also to provide personalized medicine based on genomic information.

Main lines of research:

  • Genetics and molecular biology of cancer-prone genetic syndromes with a focus in familiar breast cancer and Fanconi Anemia and related chromosome fragility syndromes.
  • Genetic characterization of Fanconi patients and identification of new genes involved in the disease and into hereditary breast cancer syndrome.
  • Development of new diagnostic and therapeutic  tools in Fanconi anemia, including gene therapy, regenerative medicine and drug repurposing.
  • Mechanism of genomic instability and predisposition to cancer. Study of DNA repair mechanism and  biological and clinical consequences of DNA repair failure.
  • Fanconi/BRCA pathway in cancer. Implications of Fanconi genes in cancer and their use as therapeutic target against cancer. Development of DNA repair inhibitor against cancer by synthetic lethality.

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