Appointment of Sergi Castellví-Bel, Group leader (R4)
The human genome delineates us as human beings and modulates the probability that we suffer specific diseases in the future. If we can unravel which genes are responsible of these disorders, we will be able to improve our health

Current research

Problem

Cancer is the second leading cause of death worldwide. Gastrointestinal neoplasms, such as colorectal cancer and gastric cancer, are frequent tumors. A significant part of them is due to the alteration of genes transmitted from generation to generation within the same family.

These genes need to be identified, we should know how they work and check if they can predispose to cancer when altered. By doing so, we will improve knowledge about these diseases, we will be able to identify at-risk individuals and personalized strategies for prevention and treatment could be designed.

Approach

Our group works to identify alterations in the human genome which are relevant for the inherited predisposition to develop gastrointestinal neoplasms. To determine them, we use genetic association studies, where we compare the genomes of patients and healthy controls, and massive sequencing studies to decode the genome.

To test the effect of these genetic alterations, we use molecular and cell biology tools such as gene editing with CRISPR and organoid culture, which are tridimensional structures that recreate the gastrointestinal tissue in the laboratory.

Impact

Our research identifies new genes and genetic variants involved in hereditary predisposition to gastrointestinal cancer. Our group has been able to tackle new genetic variants by means of the results obtained in genetic association studies performed by international collaborative efforts.

Sequencing studies have identified relevant candidate genes, and we are applying functional studies to corroborate their implication in cancer predisposition. Our group wants to use these new genetic variants to improve the clinical management of patients and, as a result, offer them personalized follow-up and treatment.