Research Research groups Molecular neurogenetics

About

We focus on the dissection of the molecular and cellular pathways that are disrupted by rare genetic variants underlying neurodevelopmental disorders. The newly obtained insights into mechanisms of disease are used to develop strategies for therapeutic interventions.


Research group leader

prof. dr. Hans van Bokhoven

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Aims

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Aims

We aim to gain insight into the molecular underpinnings of human development, in particular the development and functioning of the nervous system in order to improve patient care and options for diagnostics and therapy.

Overall, this group has identified a large number of genes (around 100) that carry causative mutations in a variety of (neuro-) developmental disorders that have an important medical and socio-economic impact on our society, being a pioneering advocate of the concept of converging networks and pathways amongst neurodevelopmental disorders, such as synaptic activity and chromatin disruptions.

These common mechanisms provide an excellent starting point for fundamental research and research aimed to develop new strategies for intervention. To that end, we follow a multi-level strategy, including functional analyses of in vitro and in vivo models. In vivo studies comprise neurobiological and behavioral research in animal models, in particular Drosophila melanogaster (fruit flies) and mice. In vitro studies encompass the manipulation and neurophysiological assessment of induced pluripotent stem cell-derived 2D and 3D neural models for functional studies and for pre-clinical testing of novel interventions, including gene therapy, cell therapy, genetic editing and drug repurposing.



Publications

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Publications

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