The department is part of VIB, a life sciences research institute based in Flanders, Belgium. VIB performs basic research with strong focus on translating scientific results into pharmaceutical, agricultural and industrial applications. The University of Antwerp is characterised
by its high standards in education, internationally competitive research and entrepreneurial approach. Three PI’s perform research on inherited peripheral neuropathies (IPN). We are among the first to have identified the most common mutation in Charcot-Marie-Tooth disease (CMT1A duplication), and subsequently identified >10 disease genes for CMT. We have a multidisciplinary expertise in clinical research, molecular genetics and cell biology of IPN. We curate the IPN mutation database and are involved in IPN registries (http://www.molgen.vib-ua.be/CMTMutations/). We perform NGS to identify novel genes, provide diagnostic screening platforms, and model genes in cells and small model organisms.
Role within NeuromicsContinuously recruit new NDD/NMD patients and perform deep phenotypic analysis particularly focusing on genetically undiagnosed patients. Integration of NDD/NMD patients in existing registries and biobanks, with the aim to make data and biomaterials available for genomic and biomarker studies. Generation of hiPSC lines from selected patients. Analyze DNA samples by WES (in a first phase on HMN patients). For novel genes, cellular and functional studies using in vitro and in vivo animal models will be carried out.
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