Decoding gene and (epi)genome control in health and disease
It is well documented that aberrations in DNA Damage Response pathways are causatively linked to genome instability and are implicated in human pathology and health-impairing disorders. Faulty or no repair of DNA damages can yield to irreversible mutations contributing to developmental defects, whereas the progressive accumulation of mutations throughout life can lead to cancer and aging. Our research focuses on understanding how the underlying regulatory networks and dynamics of the transcriptional and chromatin landscapes are affected in humans upon genotoxin-induced stress as well as in rare neurodevelopmental inborn conditions and cancer.
The specific aims of our lab involve i) the elucidation of the genome maintenance mechanisms, transcription regulation events, gene regulation networks and associated chromatin dynamics, whose perturbation give rise to cancer or rare inborn disorders and ii) the characterisation of their role in cancer or disease initiation and progression by delineating the molecular signatures, mutational landscapes and cellular heterogeneities/trajectories detected in the particular systems under study.
To achieve our goals, we employ advanced proteomics and biochemical, molecular and cellular biology methods and functional system biology approaches (bulk and single-cell (sc) transcriptomic and (epi)genomic analyses) in a large battery of human cells and patients-derived material. Our rational is that, in depth understanding of genome maintenance mechanisms and their regulation, will help us reach our ultimate goal, which is to reveal the accurate disease biological processes and dissect therapy resistance mechanisms that may lead to the development of novel therapeutic approaches and improve patients’ quality of life.
Our work is funded by
