Projects
The Belgian prenatal microarray database (BEMAPRE): realization of the database, determination of genotype-phenotype correlations and postnatal follow-up. University of Antwerp
Genetics of Dravet syndrome – from genotype-phenotype correlations to disease modeling in zebrafish. University of Antwerp
Audiological and genetic determination of hearing loss in patients with Osteogenesis Imperfecta Ghent University
150 patients with Osteogenesis Imperfecta (OI) and identified pathogenetic collagen mutations are submitted to extensive audiological examination in order to characterize the hearing impairment associated with OI. A genotype-fenotype correlation will be studied to establish a relationship between the molecular defect and the hearing loss. Environmental influences and contribution of identified deafness genes on the hearing impairment in OI ...
Unraveling the ophthalmological phenotype and etiopathogenetic mechanisms in pseudoxanthoma elasticum Ghent University
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder, characterised by skin and eye symptoms, as well as heart and blood vessel (cardiovascular) disease, due to calcification of elastic fibres in these organs. It is caused by defects (mutation) in a transporter protein, ABCC6. Neither the substrate of this transporter, nor how it causes PXE is presently known. The first objective of this project is to get more insights into the ...