Gabriela Vilema Enriquez
The aim of my project is to investigate the molecular mechanisms involved in Friedreich’s ataxia (FRDA), the most common inherited recessive ataxia. FRDA is caused by an expansion of the GAA triplet repeat in intron 1 of the frataxin-coding gene (FXN). The presence of this expansion reduces FXN expression by an unknown mechanism. I will use the new cellular model of FRDA recently published by the laboratory, which recapitulates the FXN repression in a highly physiological manner. I will look for FXN expression using real-time visualization of gene transcription at the single-cell level and study compounds that restore the FXN transcription kinetics. I will focus on the mechanism of action of such molecules, by performing transcriptional and/or proteomic profiling studies to identify the potential pathways affected in FRDA.
I graduated from the Army Forces University in Quito-Ecuador, where I obtained my bachelor’s degree as a Biotechnology Engineer. After completing a 2 year- research project at the Biomedical Center of the Central University of Ecuador under the supervision of Dr. Edmundo Estévez, I was awarded a scholarship from the Ecuadorian government through SENESCYT, to go to Pierre and Marie Curie University in Paris. There, I completed a Master’s programme in Cellular and Molecular Biology and started to get involved in the neuroscience field. During the last year of the programme, I studied the role of the Fragile X Mental Retardation Protein (FMRP) in the subventricular zone of adult mice, guided by Dr. Isabelle Caillé at the laboratory of Development and Plasticity of Neural Networks. Thereafter, I returned to Ecuador to work culturing human cancer cell lines at the Nanomedicine and Nanobioloby laboratory of the Army Forces University led by Dr. Marcelo Grijalva. In 2015, I was awarded a new scholarship from SENESCYT, and in October, I joined Professor Wade-Martins' group as a postgraduate student where I work under his direct supervision.