Biomedical epigenomics

Problem

Neoplasms that originate in the lymph nodes represent a heterogeneous group of diseases with very different biological and clinical characteristics. Understanding the underlying mechanisms of the development and evolution of these neoplasms is essential in order to gradually improve their diagnosis, estimate their prognosis and treat patients.

Approach

The group studies lymphoid neoplasms such as chronic lymphocytic leukaemia or mantle cell lymphoma from the perspective of epigenetics, which is the science that analyses the way in which gene expression is regulated.

Its aim is to discover and evaluate the keys to the transcriptional alterations found in samples from patients with lymphoid cancer. To achieve this, the group studies different epigenetic markers such as DNA methylation, histone modifications, chromatin accessibility, and 3D genome structure.

Impact

The group’s research has resulted in different findings, such as: knowledge of how lymphoid neoplasms maintain an epigenetic signature from their cell of origin; that the activity of regulatory sites at a distance from the genes, so-called enhancers, are deregulated by epigenetic alterations and mutations; and that certain transcription factors appear to be the main elements responsible for altering the activity of the regulatory sites.

Apart from helping to understand how lymphoid neoplasms function, these studies have enabled the group to better calculate the clinical outcome of patients and identify new therapeutic targets.