Projects
RNA interference identification of relevant novel mutations detected by next generation sequencing in T-cell acute lymphoblastic leukemia. KU Leuven
Long Read Sequencing for the detection of cryptic Structural Variation in patients with intellectual disability and congenital anomalies KU Leuven
A correct and early genetic diagnosis is essential for patients with intellectual disability and/or multiple congenital anomalies (ID/MCA). A proper diagnosis avoids a ‘diagnostic odyssey’, is vital for family planning, and enables the initiation of early therapeutic interventions in order to improve the outcome. Technical innovations were always instrumental to delineate (new) genetic syndromes and led to an ever-increasing diagnostic yield. ...
Long Read Sequencing for the detection of cryptic Structural Variation in patients with intellectual disability and congenital anomalies Ghent University
Successive technological innovations have repeatedly revolutionized the
genetic diagnostics. Since 1959, trisomy 21 has been identified as the cause of Down syndrome
The introduction of conventional chromosome research has become molecular for the past 60 years
cause for> 5,000 genetic diseases clarified (OMIM, "Online Mendelian Inheritance
in Man "). With ...
Role of ribosome defects in leukemia development. KU Leuven
T-cell acute lymphoblastic leukemia (T-ALL) is a genetically complex leukemia caused by accumulation of various genetic defects that affect critical cellular functions such as proliferation, survival, differentiation, cell cycle and self-renewal. Despite the multiplicity of known mutations, our knowledge of the genetics of T-ALL still seems incomplete as illustrated by the fact that mutations in 4 novel tumor suppressor genes in T-ALL were ...
Breast cancer-associated risks of established susceptibility loci in other cancers. KU Leuven
As a PhD student, I studied the potential of whole-genome sequencing data to assess various types of genetic variability (i.e. point mutations, insertions and deletions, copy number alterations, fusion genes, expression and methylation changes) and studied how each of them could contribute to a specific human disease. For this purpose, I developed, used, combined and adapted numerous different bioinformatical approaches and applied them to ...
Unraveling the molecular basis of congenital heart defects Ghent University
Congenital heart defects (CHD) affect 1% of all life-born children and are a leading inborn cause of morbidity and mortality. CHD can be part of a syndromal constellation, but the vast majority occurs isolated and sporadically. Important progress has been made in the understanding of the molecular heterogeneity in syndromal CHD, while isolated forms remain largely unexplained. We hypothesize that mutations only present in cardiac progenitor ...
HiSeq 2500: high throughput next-generation sequencer for ultrafast and cheap decoding of whole exomes, genomes, transciptomes, epigenomes and viromes. Ghent University
Hercules 1 - De Baere
HiSeq 2500: high throughput next-generation sequencer for ultrafest and cheap decoding of
whole exomes, genomes, transcriptomes, epigenomes and viromes.
Herculesstichting
AUGE/13/23
Host genetic susceptibility for chickenpox associated neurological complications. University of Antwerp
Identification and functional characterization of novel genes causing syndromic microcephaly. KU Leuven
Microcephalie (MC) in humans is a condition characterized by abnormal small head circumference for the respective age and sex. It can occur as isolated feature (non-syndromic forms) or in combination with other characteristics (syndromic forms). MC is genetically heterogeneous, but some of the non-syndromic forms were explained by mutations in genes implicated in cell division and cell cycle progression, including structural genes involved in ...