I am a molecular biologist and lead the research group: “Regulatory RNA and chromatin” at the Josep Carreras Research Institute (IJC) in Badalona, Spain, where our main focus is the study of RNA biology and the epigenetic regulation in disease. The epigenetic dysregulation is prominent in a number of neurological diseases, and for many years we have been interested in uncovering new roles for the noncoding RNAs that are especially enriched in the brain and whose biological function remains unknown. Rett syndrome is mainly caused by the loss-of-function of MeCP2, a master epigenetic regulator, and the lab has been investigating the main pathways affected by its dysregulation to devise new therapeutic strategies. Currently, we are interested in developing new 2D and 3D human neural cell models for the study of the syndrome. Further, the lab is collaborating with companies specialized on epigenetic drugs to test new inhibitors of chromatin modifiers as effective therapeutic agents in the disorder.
Sonia Introduces Herself
I lecture at the University of Barcelona, am an ad-hoc grant reviewer for international funding agencies and have served as special editor for peer-reviewed journals. Research in the lab has been funded by several different public agencies and foundations, including national and international funding bodies. In 2019, the lab was awarded a competitive grant on the first edition of FinRett, which is a joint initiative from the Catalan and the Spanish Rett syndrome associations (ACSR and AESR) to enhance the research on Rett syndrome in Spain. I am in close contact with ACSR and AESR since 2015, and dissemination activities to the families have included open-doors days and meetings with the associations’ spokesmen, and, regular reporting of the team’s advances.
To see my publications, go to: https://orcid.org/0000-0002-2257-3331
Relevant publications
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome
Siqueira et al.
Lay Summary
In this work, the fraction of the human genome that does not code for proteins but has important regulatory roles (what is known as the noncoding transcriptome) is explored in RTT. By combining experiments in mouse animals and human cell models, together with data obtained from patient’s brains post-mortem samples, changes in the noncoding transcriptome have been revealed. Some key changes are linked to altered control in the formation of important neural structures, including the cytoskeleton (the scaffold of the cells) and some of the membrane receptors that are crucial for the glutamatergic (excitatory) signalling in neurons. Strikingly, by acting through different cellular pathways, different classes of noncoding transcripts influence nevertheless the same key processes down the road, which highlights the potential for this type of transcripts (traditionally overlooked in RTT studies) to reveal important aspects in RTT pathogenesis. Their utility as therapeutic targets and/or disease biomarkers will be further assessed in future studies.