Assistant Professor - medical
Strategic program(s):
Biography
I work as a Clinical Geneticist and Assistant Professor in the UMC Utrecht. I engage daily with patients afflicted by neurodevelopmental disorders (NDDs) such as autism and epilepsy. In 2018 I took a leading role in setting up the multidisciplinary clinic for developmental disorders in the UMC Utrecht Wilhelmina Children’s Hospital, providing early diagnostics and support for children with developmental delay. Witnessing their long diagnostic odyssey and lack of effective treatments strongly fuels my dedication to enhance our understanding of these disorders. I effectively combine my clinical and research skills by leading a translational research group. My research is centered around four objectives:
- Discovering novel disease genes and variants implicated in NDDs
- Establishing and analyzing patient cohorts of rare/ newly discovered NDDs
- Developing functional assays/ biomarkers to assess rare genomic variants
- Unravelling underlying disease mechanisms using in vitro cellular models
I integrated my PhD on Malformations of Cortical Development (MCD) with my clinical training in the Department of Clinical Genetics at the Erasmus MC, Rotterdam (2011-2016). During this trajectory my primary focus was on neurogenetics and gene discovery, for which I obtained comprehensive training in syndrome delineation, brain imaging and genotype-phenotype analysis. Concurrently, I obtained laboratory skills, including culturing cell lines, immunofluorescence, and the analysis of exome and genome sequencing and genome-wide expression data.
Recently, I have delineated a novel NDD, the KDM2B-associated syndrome. My group is currently investigating the molecular mechanisms of the KDM2B syndrome and its effect in neuronal differentiation. We employ in vitro neuronal cell models, utilizing induced pluripotent stem cells technologies to differentiate patients’ cells into neuronal cell lines.
To accelerate research collaborations, and to share and disseminate knowledge I acted a co-founder and co-leader of the European network for brain malformations Neuro-MIG (2016-2021). I regularly perform peer reviews and I have contributed to patient information on the websites of the Dutch Epilepsy foundation (EpilepsieNL) and Brain Foundation (Hersenstichting).
