Appointment of Sergi Castellví-Bel, Group leader (R4)
The human genome defines us as people and conditions the probability of us suffering certain diseases in the future. Determining which genes are responsible allows us 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 common tumours. An important number of these cancers are due to alterations of genes, which will be transmitted down generation after generation within the same family.

It is necessary to determine what these genes are, how they work, and whether their alteration predisposes people to cancer. This will improve knowledge of these diseases, permit the identification of people at risk and enable strategies to be designed for personalised prevention and treatment.

Approach

The group works to identify alterations of the human genome that are relevant to hereditary predisposition towards suffering gastrointestinal neoplasms. To determine them, we use genetic association studies, in which the group compares the genomes of patients and those of healthy controls, along with mass sequencing studies to decode the genome.

To verify the effect of genetic alterations, it uses molecular and cellular biology tools such as gene editing using the CRISPR system and the growth of organoids, three-dimensional structures that allow it to recreate gastrointestinal tissue in the laboratory.

Impact

The group’s research identifies new genes and genetic variants involved in hereditary predisposition to gastrointestinal cancer. It has been able to identify new variants thanks to the results obtained in genetic association studies and in international collaboration.

Sequencing studies have identified significant candidates, and the group is applying functional studies to corroborate their implications for predisposition towards cancer. The group wants to use these new genetic variants to improve the clinical management of patients and to develop customised follow-up and treatment.