About E. (Elena) Perenthaler
Introduction
The development of the cerebral cortex is a complex and dynamic process. Alterations in this process can result in neurodevelopmental disorders (NDD), a common cause of developmental delay, intellectual disability and epilepsy. As many genetic NDDs remain unexplained by current genetic technologies, patients in whom no disease-causing mutation has been identified likely harbor mutations in under-investigated regulatory regions such as enhancers. My research concerns the study of the non-coding genome in gene regulation both in physiological and pathological settings, dissecting how alterations in enhancers can lead to NDDs.
Education and career
- Postgraduate Erasmus+ internship. University of Edinburgh (Jan - Jul 2017): During this project I investigated the variability of Survival Motor Neuron (SMN) protein levels during development and in different tissues of Spinal Muscular Atrophy (SMA) mouse models.
- MSc in Cellular and Molecular Biotechnology - Neurobiology study track. University of Trento (Oct 2014 - Oct 2016): During my thesis project I studied the translational defects in early symptomatic SMA and the role of SMN in translation regulation.
- B.Sc in Biomolecular Sciences and Technology. University of Trento (Sep 2011 - Sep 2014): My thesis-project was focused on the study of the RNA binding protein CELF3 in translation regulation and neurites outgrowth.
