About E. (Eva) Medico Salsench
Introduction
My PhD 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.
Education and career
BSc Biomedical Sciences at Universitat de Barcelona.Thesis: “Aberrant splicing events in SF3B1-mutated Uveal Melanoma”
MSc Molecular Medicine at Erasmus University Medical Center Rotterdam. Thesis: “The consequences of UGP2 deficiency during development assessed by neuronal induction”
Publications
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly and epilepsy.
Mohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida Bertoli-Avella, Ibrahim H. Kaya, Jumanah AlSufayan, Laila AlQuait, Azizah Chedrawi, Stefan T. Arold, Dilek Colak, Tahsin Stefan Barakat , Namik Kaya. (2020). Acta Neuropathol. 2020 Jan 31. 8
Mohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida Bertoli-Avella, Ibrahim H. Kaya, Jumanah AlSufayan, Laila AlQuait, Azizah Chedrawi, Stefan T. Arold, Dilek Colak, Tahsin Stefan Barakat , Namik Kaya. (2020). Acta Neuropathol. 2020 Jan 31. 8
