On Wednesday 25 September 2024, J. Dekker will defend the doctoral thesis titled: ‘Neurodevelopmental Disorders: From clinical phenotypes and genome analysis to gene function‘.
- Promotor
- Co-promotor
- Co-promotor
- Date
- Wednesday 25 Sep 2024, 13:00 - 14:30
- Type
- PhD defence
- Space
- Professor Andries Querido room
- Building
- Education Center
- Location
- Erasmus MC
Brief summary:
Neurodevelopmental disorders (NDDs) are conditions where brain development is impaired, often leading to intellectual disabilities, speech and motor challenges, and sometimes epilepsy. Many severe cases of NDDs have a single-gene cause. This thesis aims to improve our understanding of the genetic causes and mechanisms behind these disorders by introducing new clinical, diagnostic, and research tools.
We found that for some NDDs caused by a single gene, recognizing specific patterns in brain MRI scans can help determine whether a DNA variant is harmful. However, current DNA sequencing methods don't always provide a clear genetic diagnosis. To address this, we tested a new diagnostic approach using messenger RNA (mRNA) sequencing, which increased the diagnosis rate by 13% for patients where other tests had failed. Finally, we used zebrafish as a model to study how these defective genes affect brain development. for one gene, we discovered that general cellular pathways were disrupted early in brain development. In another, we found that specific neuron cells died during early development.
Overall, this thesis highlights the importance of combining clinical observations, innovative diagnostic tests, and model organisms to better understand and diagnose genetic NDDs.
- More information
The public defence will begin exactly at 13.00 hrs. The doors will be closed once the public defence starts, latecomers can access the hall via the fourth floor. Due to the solemn nature of the ceremony, children under the age of 6 are not allowed during the first part of the ceremony.
