I finished my BSc in Biomedical Sciences at Universitat de Barcelona with the thesis “Aberrant splicing events in SF3B1-mutated Uveal Melanoma” after doing an internship in the group of Dr. J.E.M.M. de Klein. During my master's program, MSc Molecular Medicine at the Erasmus University of Rotterdam, I did two internships in the Department of Clinical Genetics. First, with the group of Dr. T.J. van Ham researching in vivo modeling of chemobrain and gene regulation in different cell types in zebrafish. Second, I did an internship in my former group with Dr. T.S. Barakat about cell reprogramming and genome-wide CRISPR screen to diagnose genetic intellectual disability syndromes. My master’s thesis was “The consequences of UGP2 deficiency during the development assessed by”. My Ph.D. project focuses on unraveling the role of the non-coding genome in gene regulation, with a focus on human embryonic stem cells and neurodevelopment. Many developmental disorders cannot be explained by routine genetic diagnostics. Thus, we anticipate that many of these disorders are caused by alterations of non-coding elements, including enhancers. My group recently discovered a novel epileptic encephalopathy caused by mutations in the UGP2 gene. Currently, we additionally work to understand the mechanisms of not only this epilepsy but also another encephalopathy caused by mutations in the YIF1B gene.