Cognitive genetics studies the influence of genetic variation on cognition and central nervous system disorders. At the Center of Medical Genetics in Antwerp, we aim to identify genetic causes of cognitive disorders and study the molecular defects in order to eventually develop rational therapy.
Novel causes of cognitive disorders are identified starting from rare, affected families or from patients with specific chromosomal abnormalities, such as single nucleotide variants, microdeletions or microduplications, translocations and fragile sites. To achieve this, we have developed novel technologies and optimized existing wet-lab and computational methods. We strive to develop intuitive interfaces to efficiently identify and interpret the variation observed in the genome using technologies capable of handling massive amounts of data. In the context of general pathway deregulation and gene-gene interactions, we focus on methods that allow robust and secure collaboration on multi-centre cohorts to identify distinct mutations in multiple genes affecting the same pathway, which might result in similar phenotypes. One of our in-house platforms, VariantDB, provides dynamic annotation and filtering strategies in a collaborative setting, for Next-Generation Sequencing data. Being actively used by over 200 researchers worldwide and holding over 10,000 samples, it has proven itself as a value asset in daily practice.
Office: Campus Drie Eiken, Prins Boudewijnlaan 43/6, 2650 Edegem, Belgium
Office Phone: +32 (0)3 275 97 56
Lab: Cognitive Genetics research group, Center of Medical Genetics, University of Antwerp