PhD defence T.H. (Tse) Wong
- Prof.dr. J.C. van Swieten
- Dr. H. Seelaar
On Thursday 3 December 2020, T.H. Wong will defend his PhD dissertation, entitled: ‘Whole Exome Sequencing in Alzheimer’s Disease and Frontotemporal Lobar Degeneration’.
Dementia is a disorder characterized by impairment in memory, thoughts, planning and behavioral disturbances that interfere with ability of daily functioning, with Alzheimer’s disease (AD) as the most common form of dementia, and frontotemporal dementia (FTD) as the second most common before age of 65.
My thesis focuses on the genetics of these two types of dementia. Using whole exome sequencing (WES), we have attempted to identify the underlying genetics defects in patients with AD and FTD. WES is a technique that investigates genetic information in protein coding regions of DNA. These genetics defects, also known as gene mutations, are responsible for developing dementia. In this thesis, we are able to identify the underlying gene mutations in patients with familial AD and FTD. In a few patients with AD, we have found mutations in known AD causing genes (Presenilin 1 and 2). In a small number of FTD patients, we have identified the underlying mutations in VCP and TUBA4A genes. These genes are also associated with amyotrophic lateral sclerosis.
At last, using WES and proteomics we have identified a new mutation in PRKAR1B gene in a rare type of dementia with parkinsonian symptoms.
The identification of new genetic defects give us insights in the disease mechanisms involved in AD and FTD. This is important for the development of medication for dementia in the future.
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.