Advancing Epigenetics Towards Systems Biology

Lorenzo Pasquali

Germans Trias i Pujol University Hospital and Research Institute, Badalona, Spain

Endocrine Regulatory Genomics

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lorenzo pasquali

The endocrine system consists of a collection of distinct cell identities organized in tissues and shaped into functional organs. These highly specialized tissues ensure the physiological equilibrium of an organism and its possibility, throughout life, to interact with the environment.

How do these cell populations preserve their identity? Which molecular mechanisms are required to maintain their phenotype stable for decades? How are gene regulatory networks altered in pathological conditions?

In our group we combine wet-lab and bioinformatic analysis to probe genome-wide regulatory mechanisms that control function and cell fate of endocrine tissues central to diabetes.

Chromatin accessibility is a major determinant of the transcriptional regulatory networks that determine cellular identity and maintenance. For example, by studying the chromatin landscape of insulin-producing pancreatic beta cells we and others, uncovered large domains of accessible chromatin targeting genes that shape cell-type identity. In-depth understanding of chromatin accessibility dynamics and unmasking regulatory defects will open the path to the identification of drug targets and innovative therapies.

We are currently studying the genomic and epigenetic regulation of the pancreatic beta cells. Our research is focused on the regulatory changes that underlie different forms of diabetes and loss of cell fate in neoplastic conditions such as in the neuroendocrine tumors.