Research

Regulation of gene expression is the fine-tuning of the synthesis of the functional product of genes and is one of the most fundamental processes in life. It is the process that makes different cell types have different properties and differentiates unhealthy from healthy cells. Gene expression is regulated by internal signals (the activity of other genes, mutations, etc.) and by external signals (diet, temperature, pharmacological therapies, etc.). 

Since 2011, we have been studying different aspects of gene regulation, including chromatin, DNA methylation and small non-coding RNAs. We have also been looking at how different types of exposure and drug treatments affect gene expression. We have a long-standing interest in the non-coding part of the genome, specifically non-coding sequence elements that affect gene regulation.

Our current research

Our research focuses on three main areas. Firstly, we study the effect of the environment on gene expression changes that are transmitted from parents to their offspring.We want to understand how information about our exposure to different environments may be encoded in molecules - other than DNA - inside germ cells that are transmitted between generations. Transmission of non-genetic information can influence an individual’s phenotype, or disease risk. We would like to find out which molecules in the germline carry such information.

Secondly, we work on non-coding RNAs and other non-coding elements that influence gene expression. We are interested in which non-coding elements affect gene expression and how. These include distal enhancers, small non-coding RNAs and transposable elements. Most genetic variations between individuals occur within the non-coding parts of our genomes. We want to understand which of these variations influence gene expression and potentially phenotype/disease risk.

Finally, we want to understand how epigenetic drugs affect gene expression and chromatin in different genomic contexts. Epigenetic drugs currently used in the clinic include those for the treatment of patients with acute myeloid leukaemia and myelodysplastic syndrome. Our work involves analysing data from experiments on human cell lines. A more in-depth understanding of the effects of these drugs and how they work may lead to improved or more personalized medicine in the future.

Our goals

Our aim is to contribute to a better understanding of gene regulation and the consequences of drug treatments and inter-individual genetic variation in gene expression. Although most of our research is based on data from animal model organisms or cell lines, we hope that, in the long term, the knowledge acquired will increase our understanding about humans.

Extensive aberrant gene expression and genome deregulation are extremely common in cancer, especially haematological forms, and treatments targeting gene regulation pathways are being used for haematological malignancies.

Last, but not least, we hope that the data we generate and the analysis methods we develop serve as useful tools for the wider research community. 

Teaching

2018 - present

Teaching collaborator on the Màster de bioinformàtica i bioestadística de la calidad, Open University of Catalonia/University of Barcelona