Projects
Identification of modifier genes responsible for the phenotypic variability in Osteogenesis Imperfecta (OI)- patients using zebrafish models Ghent University
Identification of the mechanisms underlying the inter- and intrafamilial phenotypic variability in Osteogenesis Imperfecta, using the zebrafish as a model Ghent University
Osteogenesis Imperfecta (OI), also known as ‘rittle bone disease’ is a heritable connective tissue disorder, characterized by fragile bones and high susceptibility to fracture The most prevalent types of OI (>90%) are caused by genetic defects in collagen type I and show autosomal dominant inheritance, with symptoms ranging from mild to lethal Although to some extent, the position and the type of mutation are related to the severity of ...
Identification of novel genes and pathogenic pathways for osteogenesis imperfecta and Ehlers-Danlos syndrome, paradigm collagen disorders Ghent University
This project aims to identify novel genes and study underlying pathogenetic pathways of osteogenesis imperfecta and Ehlers-Danlos syndrome, two clinically and genetically heterogeneous heritable connective tissue disorders characterized by widespread manifestations of tissue fragility in skin, bone, ligaments, blood vessels and internal organs. Comprehensive study of these conditions is crucial for the understanding of fundamental aspects of ...
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 ...
Genetic analysis in consanguineous families from Palestine : a focus on Cystic Fibrosis and Osteogenesis Imperfecta Ghent University
Identifying disease causing mutations using Next Generation Sequencing in families originating from Palestine with an initial focus on Cystic Fibrosis and Osteogenesis Imperfecta. Consequently, carrier testing in the family members based on primer extension technology followed by realtime PCR, will be performed and implemented at the lab in the Birzeit University. In a second stage, we will investigate other genetic disorders.
Audiological en genetic determination of hearing loss in patients with Osteogenesis Imperfecta Ghent University
Aims of the study are: A detailed clinical characterization of the hearing loss in OI patients. An Evaluation of the effectiveness of stapes surgery in OI patients. An investigation of a possible association between hearing loss and characteristics of bone in OI. A genotype-phenotype correlation for hearing loss and bone characteristics in OI:
BioMedAqu: Aquaculture meets Biomedicine: Innovation in Skeletal Health research Ghent University
Skeletal anomalies in farmed fish are a continuous problem for global aquaculture, affecting fish welfare, performance, and product quality. Aquaculture research has made considerable progress in reducing the incidence of deformities, but new species, intensified production, the damned for sterile fish, delicate early life stages and new fish feed ingredients are a continuous challenge. The use of zebrafish (Danio rerio) and medaka (Oryzias ...
An integrated translational platform to improve the management and outcome of rare heritable connective tissue disease Ghent University
This interdisciplinary project aims to improve the outcome of heritable connective tissue disease. Using deep phenotyping techniques in combination with advanced genetic analysis, both in the clinic and in animal models, we expect to uncover molecular mechanisms which will inform better disease management strategies. In parallel, we aim to identify novel therapeutic targets using unbiased phenotypic screening in zebrafish models.
Aquaculture meets Biomedicine: Innovation in Skeletal Health research Ghent University
Skeletal anomalies in farmed fish are a continuous problem for global aquaculture, affecting fish welfare, performance, and product quality. Aquaculture research has made considerable progress in reducing the incidence of deformities, but new species, intensified production, the damned for sterile fish, delicate early life stages and new fish feed ingredients are a continuous challenge. The use of zebrafish (Danio rerio) and medaka (Oryzias ...