Projects
NF1-like syndromes: identification of new genes and further characterization of Legius syndrome using the mouse model. KU Leuven
Pragmatic language skills in children with 22q11.2 deletion syndrome and Williams syndrome KU Leuven
Pragmatics, as a part of linguistic competence, can be defined as the ability of a person to use language across different social contexts. In the last two decades the study of the development and use of pragmatic language skills in children with intellectual disabilities has known a remarkable growth. Pragmatic abilities of this population are an interesting study area because of their connection to cognition, social skills, functional ...
The role of the MeCP2 binding partner LEGDF in the Rett syndrome and MECP2 duplication syndrome. KU Leuven
Rett syndrome (RTT) is a progressive neurodevelopmental disorder without effective treatment that predominantly affects girls. It occurs in 1 of 10 000-15 000 women and is a major cause of intellectual disability. Two independent studies recently evidenced a direct interaction between the transcriptional co-activator lens epithelium-derived growth factor p75 (LEDGF/p75) and methyl-CpG-binding protein 2 (MeCP2). Mutations in the X-linked ...
Functional assessment and therapeutic targeting of a novel aortapathy syndrome with the strong potential to inform the pathogenesis and treatment of Marfan syndrome. University of Antwerp
South Sudan Nodding Syndrome Study: A study into the epidemiology, aetiology and outcome of nodding syndrome in South Sudan. University of Antwerp
Functional characterization of PREPL and the role in Prader-Willi syndrome KU Leuven
This PhD project will contribute to the elucidation of the functional role of prolyl endopeptidase-like. Inactivation of PREPL results in neonatal hypotonia, growth hormone deficiency and feeding problems. The regulated secretion pathway is disturbed in PREPL deficient patients, somatotrophs of PREPL KO mice and in PREPL knockdown neuroendocrine cells. Also, since PREPL interacts with AP-1, which is essential for biogenesis and maturation of ...
T-GaiD: Treatment of Gait disorders in Dravet syndrome. University of Antwerp
Development of a human in vitro neuronal model for the MECP2 duplication syndrome using induced pluripotent stem cell technology KU Leuven
The causal relationship between a disease and the underlying
genetic defect are commonly studied in animal models. However, species specific
difference in the genetic, anatomical andphysiological characteristics between
animals and humans present a major barrier in extending
the information to human diseases. Alsoin few instances,
the preclinical treatments that show success in ...