Projects
Delivery of CRISPR-Cas9 mRNA-based therapy into the inner ear by lipid nanoparticles: Cure deafness by disrupting mutant COCH expression in a humanized DFNA9 mouse model. University of Antwerp
Inner ear gene therapy to prevent deafness in DFNA9. University of Antwerp
Development of an ultra-efficient dual AAV gene therapy congenital deafness. KU Leuven
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 ...
Identification of disease genes through next-generation sequencing University of Antwerp
Unraveling the contribution of oligodendrocytes to neurodegeneration: a new look at Wolfram's disease. KU Leuven
Wolfram syndrome is a rare hereditary disease, causing diabetes, blindness, deafness and other neurological problems in infants and young adults, and results in death around the age of 30 years. Wolfram patients carry recessive mutations in the WFS1 gene, resulting in loss of function of the WFS1 protein. Loss of WFS1 has been shown to result in ER stress, dysregulated Ca2+ homeostasis and mitochondrial dysfunction. Remarkably, in the brains ...