Sonia Guil, PhD

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. 

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Relevant publications

Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice

Olga C. Jorge-Torres, Karolina Szczesna, Laura Roa, Artur Llobet, Sonia Guil, Manel Esteller


Rett syndrome (RTT) is the second leading cause of mental impairment in girls and is currently untreatable. RTT is caused, in more than 95% of cases, by loss-of-function mutations in the methyl CpG-binding protein 2 gene (MeCP2). We propose here a molecular target involved in RTT: the glycogen synthase kinase-3b (Gsk3b) pathway. Gsk3b activity is deregulated in Mecp2-knockout (KO) mice models, and SB216763, a specific inhibitor, is able to alleviate the clinical symptoms with consequences at the molecular and cellular levels. In vivo, inhibition of Gsk3b prolongs the lifespan of Mecp2-KO mice and reduces motor deficits. At the molecular level, SB216763 rescues dendritic networks and spine density, while inducing changes in the properties of excitatory synapses. Gsk3b inhibition can also decrease the nuclear activity of the Nfkb1 pathway and neuroinflammation. Altogether, our findings indicate that Mecp2 deficiency in the RTT mouse model is partially rescued following treatment with SB216763.

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