Meet our team
Principal Investigator
Bert Callewaert is a pediatrician and clinical geneticist at the Center for Medical Genetics at Ghent University Hospital. His PhD (2010), performed at Ghent university (Belgium) and Washington University School of Medicine (St-Louis, MO), focused on the molecular basis and deep phenotyping of rare elastinopathies including arterial tortuosity syndrome, congenital contractual arachnodactyly and cutis laxa. Over the years, he broadened his scope on connective tissue research to include cell-based and animal models to unravel the underlying molecular pathogenesis. He further develops translational research projects starting from his work in clinical care. He acquired clinical expertise in dysmorphology, nephro-, dermato- and cardiogenetics and engages with patient organizations and international consortia to strive for the best possible clinical care.
Lab Technicians & Supervisors
Project Manager
Master Students
Senior Collaborators
Alumni
Doctoral Theses
Osama Essawi
- Genetic analysis in consanguineous families from Palestine: a focus on Cystic fibrosis and osteogenesis imperfecta.
Eva Jacobs
- CRISPR-ing the gap between discovery and validation of candidate genes for neurodevelopmental disorders
Lore Pottie
- Exploring cutis laxa syndromes in vitro and in vivo through zebrafish modeling: lessons learnt from recently and newly discovered disease-causing genes.
Ilse Meerschaut
- Expanding the phenotypic and molecular landscape of syndromic and isolated congenital heart defects: a future for phenotype-first and genotype-first approaches.
Master after master Theses
- Ocular manifestations and biometrics of Cutis Laxa patients.
- EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
- FOXP1-related intellectual disability syndrome: a recognizable entity.
Master Theses
- PPP3CA related intellectual disability: a genotype-phenotype correlation study.
- PITX1 and lower-limb malformations.
- Editors as alternative for homology directed repair mediated knock-in generation and generation and disease modeling in zebrafish.
- 2q37 copy number variants: a Genotype- phenotype correlation study.
- Genetische basis van cardiomyopathie: Zin en onzin van genetische screening in klinische context.
- Reseach into the pathogenetic mechanism of the elastic fiber with focus on the cutis laxa syndrome.
- Research on the pathogenetic mechanisms of diseases of the elastic fiber
- Association testing between single variant in the human exome and isolated congenital heart defects.
- Klinische aflijning van het 10q26.3 microdeletie syndroom.
- Evaluatie van moleculaire basis van hypertrofe cardiomyopathie onder een oligogenisch model.
- Evaluatie van zeldzame polymorfismen in FBN1, ACTA2, TGFB2, TGFB3, TGFBR1, TGFBR2,SMAD2, SMAD3, en COL3A1 in de multifactoriële pathogenese van thoracaal aortaaneurysma.
- Epidemiology, etiology, associated congenital anomalies and prenatal diagnosis in esophageal atresia: A systematic review of the literature.
- A novel classification for cutis laxa with a cirtical appraisal of the Ghent cohort.
- Congenital cardiac defects: a round dance of genetics, environment and epigenetics.
- Genotype-phenotype correlation in patients with congenital contractural arachnodactyly: Delineation of clinical criteria.
- Comprehensive molecular analysis of FBN2, COL12A1, and COL6A1/2/3 in 102 patients with CCA or Bethlem myopathy.
- Comprehensive molecular analysis of FBN2, COL12A1, and COL6A1/2/3 in 102 patients with CCA or Bethlem myopathy.
- Evaluatie van het LTBP1 gen als oorzakelijke genetische factor bij cutis laxa.
- Evaluatie van het FBN1, LTBP2 en ADAMTSL4 gen als oorzakelijke genetisch factoren bij patiënten met congenitale lensectopie.
- Evaluatie van het FBN1, LTBP2 en ADAMTSL4 gen als oorwakelijke genetisch factoren bij patiënten met congenitale lensectopie.