Allocation research director VIB-Antwerp.

Research in our group is focused on the discovery and functional characterization of novel disease genes implicated in Frontotemporal dementia (FTD) and related disorders. Together our findings provide new insight into the pathomechanisms underlying FTD and contribute to the development of biomarkers and to the identification new targets for neurodegenerative disease therapies. While significant progress has been made in recent years, its diagnosis can be challenging and no treatments to slow or stop disease progression exist, highlighting the enormous unmet medical need of FTLD patients. Several genes including GRN and C9orf72 are associated with FTLD explaining less than 50% of the patient population. Importantly, even in patients with GRN and C9orf72 mutations, clinical research has demonstrated that the age at symptom onset and clinical phenotype is highly variable and disease penetrance incomplete, creating a significant challenge for counseling of FTLD patients and their asymptomatic relatives. In that context, we recently showed that genetic variants in and around the gene encoding transmembrane protein 106 B (TMEM106B) are able to modify disease onset and/or presentation in such patients. The overarching hypothesis is that insights derived from understanding the genetic basis of FTLD will lead to the elucidation of pathways underlying neurodegeneration. In order to obtain a comprehensive understanding of disease mechanisms, we need to generate multi-omics data including genetics, epigenetics and proteomics at the tissue and single cell levels. In our Research Program, we aim to identify and validate new candidate genes/pathways using large cohorts of patients and controls. In-depth functional characterization is subsequently performed in cellular models using state of the art technologies.

Keywords:FRONTOTEMPORAL DEMENTIA, FRONTOTEMPORAL LOBAR DEGENERATION, NEUROGENETICS, NEURODEGENERATION

Disciplines:Analysis of next-generation sequence data, Bioinformatics data integration and network biology, Bioinformatics of disease, Computational transcriptomics and epigenomics, Development of bioinformatics software, tools and databases, Single-cell data analysis, Epigenetics, Genetics, Neurological and neuromuscular diseases