- Wednesday 9 Dec 2020, 09:30 - 11:00
- PhD defence
- Spoken Language
- Professor Andries Querido room
- Education Center
- Erasmus MC
On Wednesday 9 December 2020, J.G.J. van Rooij will defend his PhD dissertation, entitled: ‘Sequencing from Blood to Brain’.
In this thesis "Sequencing, from blood to brain", we investigate the use of the sequencing method for research and clinical use. First, we show how we generated a DNA dataset of 2628 individuals from the Rotterdam Study, and how we used this to demonstrate that clinical genetic variants may also occur in healthy individuals. Second, we analyzed RNA sequencing data of 2800 individuals and comment on the best methods to do so. Then we applied these methods on brain RNA sequencing data of Alzheimer's Disease patients and non-demented controls. Finally, we combine both methods and sequence DNA of brain and blood tissue of Semantic Dementia patients and identify somatic genetic variants present only in the brain of two of sixteen patients. These findings have impact for the clinical use of sequencing.
Due to corona, the PhD defences do not take place publicly in the usual way in the Senate Hall of the Professor Andries Querido Room. The candidates will defend their dissertation either in a small group or online.