Projects
Segmental duplication structural variation as the cause for the 22q11DS phenotypic variability KU Leuven
The 22q11 deletion syndrome (22q11DS), also known as the DiGeorge syndrome or Velo-Cardio-Facial syndrome, is the most common microdeletion syndrome, with a prevalence of 1 in 4000 births. The 22q11 deletion is caused by non-allelic homologous recombination between segmental duplications, causing a 3MB deletion in 90% of patients. Typical phenotypes include congenital heart defects, learning difficulties, characteristic facial features, and ...
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 ...
Charting the genomic sequence of the 22q11 low copy repeats by cross-platform sequencing to unravel the causes of the phenotypic variability of the 22q11.2 deletion syndrome. KU Leuven
Mapping the functional role of the low copy repeats in the phenotypic variability of the 22q11.2 Deletion Syndrome KU Leuven
The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder in humans with an estimated incidence of 1 in 3000 live births. The patient’s phenotype is highly heterogeneous and includes congenital heart defects, palatal anomalies and neuropsychological disorders such as schizophrenia which affects 30% of the carriers. These features however are never fully penetrant and the reason for their variability ...
Mapping the role of the low copy repeats in the phenotypic variability of the 22q11 Deletion Syndrome KU Leuven
The 22q11 deletion syndrome (22q11DS) is the most common
genomic disorder, with a prevalence of 1 in 3000 births. The reason
for this high incidence remains an enigma. The presence and
degrees of severity of most phenotypic features are highly variable
across patients and it remains unknown why some patients acquire
neuropsychiatric features and others do not. The deletion is caused
by non-allelic homologous ...
Study of genomic modifiers underlying phenotypic variability of congenital heart defects and developmental disorders KU Leuven
The overall goal of this project is to understand genetic mechanisms underlying phenotypic variability of rare disorders, by combining deep phenotyping and genotyping in three cohorts with a different genomic architecture.
Identification of modifier genes responsible for the phenotypic variability in Osteogenesis Imperfecta (OI)- patients using zebrafish models Ghent University
Identification of modifier genes underlying the phenotypic variability in the ‘Brittle Bone Disease’, using zebrafish models and patient-derived induced pluripotent stem cells Ghent University
We postulate that ‘modifier genes’ are responsible for the variable disease severity in Osteogenesis Imperfecta (OI), by altering the manifestations of the major mutated gene. We aim to identify the modifier genes contributing to the intra-familial phenotypic variability in OI, using zebrafish models and human induced pluripotent stem cells. These ‘modifiers’ represent promising targets for intervening in disease initiation/progression....
Monogenic autoinflammatory disorders: streamlining the identification and validation of novel variants and exploring the phenotypic variability of disease. KU Leuven
Monogenic autoinflammatory disorders (AIDs) are a group of rare conditions caused by inappropriate activation or lack of regulation of the innate immune system. There has been an increase in the number of AIDs described in the past decade, providing insight into different innate immune pathways in both health and disease. These diagnoses have been made with the use of next generation sequencing, namely whole exome and now whole genome ...