For more information please contact Prof. dr. Hilde Van Esch, mail: email@example.com.
Prof. dr. Hilde Van Esch - Department of Human genetics, KU Leuven - Laboratory for the Genetic of Cognition - Herestraat 49 box 602, 3000 Leuven, Belgium
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Research in the Laboratory for Genetics of Cognition focuses on the clinical, genetic and molecular characterization of genetic disorders, associated with intellectual disability, X-linked as well as autosmal. Besides gene identification, applying the latest technology, we are also involved in developing models for neurodevelopmental disorders using the induced pluripotent stem cell technology. This research is done in close collaboration with several other groups at the Department of Human Genetics, as well as with groups in the KU Leuven and abroad.
Given the uniqueness of the human brain and the difficulty to study the brain of patients at the cellular and molecular levels (neuronal material/brain biopsy), the advent of human pluripotent stem cell (PSC) has offered new opportunities to study human neural development in health and disease. We apply since 2014 the iPSC technology, to model neurodevelopmental disorders in vitro, such as MECP2 duplication syndrome and CSC-KT syndrome. In this proposal, we will collaborate with Prof. Vanderhaeghen, whose laboratory pioneered in in vitro models of corticogenesis, whereby PSC are differentiated efficiently into cortical pyramidal projection neurons, and who has started to develop models of xenotransplantation, where human neurons derived from PSC can be transplanted into the mouse cortex, and then develop in vivo.
We will combine these two technologies in order to develop an in vivo human model of MECP2 related disorders, both Rett syndrome and MECP2 duplication syndrome