First Faculty of Medicine, Charles University, Prague
Research Objectives
– To provide instrumental (sequencing), computational and bioinformatic/statistical platforms for analyses of the human genome to other collaborating NINR research groups.
– We aim to establish the diagnosis(es) and understand the etiology of selected neurological diseases and/or defined neurological phenotypes in collaboration with clinical researchers participating on the project. We will focus our studies on patients (and their families) with neurometabolic diseases, adult forms of neuronal ceroid lipofuscinosis, Wilson disease, and familial dystonia. We will also evaluate patients with severe neurological or neuropsychiatric affliction with unknown (but genetically suspect) origin