Evaluatie van genetische factoren betrokken bij cerebrovasculaire ziekten.
Fordel Nina, 2025
Stroke is a leading cause of mortality and disability worldwide, with complex multifactorial origins involving environmental, behavioral, and genetic factors. While modifiable risk factors explain much of its burden, genetic predisposition plays a crucial role, particularly in young or cryptogenic cases. Monogenic stroke syndromes provide direct causal insights, whereas polygenic influences shape susceptibility across populations. Recent advances in whole exome sequencing and gene panel analysis enable the detection of pathogenic variants, yet clinical integration faces challenges of interpretation, utility, and accessibility. This thesis analyzes WES data from 1,841 consecutive stroke patients to evaluate genetic contributions to stroke, diagnostic yield of stroke gene panels, and implications for personalized care.
| Promotor | Olivier Vanakker |
| Opleiding | Geneeskunde |
| Domein | Neurologie |
| Kernwoorden | Genetica Stroke Gene panels |