Department Director: Christine Van Broeckhoven
The VIB DMG has a longstanding tradition of combining expertise in molecular genetics and clinical neurology to analyze complex neurological diseases of the central and peripheral nervous system. In the coming years, the focus will be on increasing our understanding of the molecular aspects of neurodegenerative processes observed in diseases such as neurodegenerative dementia, epilepsy, peripheral neuropathies and spastic paraplegia with the ultimate goal to open avenues for translational research and potential therapeutic interventions. Germane to this final goal we will apply considerable effort to elucidate the molecular signaling pathways that help translate genomic mutations into full-scale disease pathologies.
The neurodegenerative diseases studied in VIB DMG are predominantly diseases affecting adults, which are typically multifactorial in nature, implying that apart from a genetic causation or susceptibility, environmental and lifestyle factors may also play a role in disease onset, penetrance and progression. Previously, we have focused mainly on families in which the disease was inherited as a monogenic trait. This approach has been highly successful evidenced by the identification of key genes and proteins such as APP and PSEN1 in Alzheimer disease, GRN and C9orf72 in frontotemporal lobar degeneration and PMP22, HSPB1, HSPB8, SPTLC2, YARS, BICD2, HINT1 and other genes in peripheral neuropathies. Several of these genes are being examined in depth with respect to their resultant effects upon neurophysiological activity in neurodegenerative disease processes.
We will continue our gene identification efforts in rare but well documented families that we have ascertained over the years making optimal use of the arsenal of next generation sequencing and ‘–omics’ (transcriptomic, metabolomic and proteomic) technologies. In addition, we will employ cohorts of selected patients with an apparent high genetic burden (e.g. affected relatives) or an extreme phenotype phenotype (e.g. very early-onset age) to support the findings from our traditional workflows. Further, we will invest in the identification and follow-up of risk genes identified in large collaborative genome-wide association studies in which we participate with extended patient/control cohorts of Alzheimer disease, frontotemporal lobar degeneration or Parkinson disease. Novel risk genes will be analyzed in depth to identify the genetic variants, whether common or rare, that truly affect susceptibility for disease and may point to biological functions relevant for disease, analogous to our studies on e.g. CLU and CR1 in Alzheimer disease. Hereto, we will use the extended patient/control cohorts that are systematically ascertained via the Belgian Neurology (BELNEU) and EU Early-Onset Dementia (EU EOD) consortia, which are coordinated by us, or via international consortia in which we participate. To understand the pathogenic role of causal mutations we will complement genomic data with multiple layers of biological information and continue to invest in cellular systems and model organisms such as yeast, mouse, rat and Drosophila or other via strategic collaborations. Comparably, we will invest in the development of rapid screening assays to identify key pathogenic variants and consequently functional domains associated with risk genes.
VIB Department of Molecular Genetics, University of Antwerp
Department Director: Prof. Dr. C. Van Broeckhoven
Scientists & research:
- Peter De Jonghe Lab
peripheral neuropathies - epilepsy - progressive external ophthalmoplegia - spastic paraplegias - gene mapping and cloning
- Jurgen Del-Favero Lab
gene mapping - product and technology development - bioinformatics - data mining
- Albena Jordanova Lab
molecular genetics – neurodegeneration – aminoacyl-tRNA synthetases – Gypsy/Roma population
- Stuart Maudsley Lab
multifactorial neurodegenerative diseases - genomics - GPCR signaling - proteomic - transcriptomic
- Vincent Timmerman Lab
peripheral neuropathy – molecular pathomechanisms – neuronal cell biology – model organisms
- Christine Van Broeckhoven Lab
Alzheimer’s disease - frontotemporal dementia - Parkinson's disease - genetics - genomics – translational neurosciences
Click here for an overview of the supporting staff