FRO 2014: using targeted next-generation sequencing to identify genes underlying keratoconus

This project is part of a larger PhD project which aims to unravel the molecular pathology of keratoconus (KC). During the first part of my PhD, the focus was placed on the identification of genes that underlie KC. Using whole exome sequencing of large KC families, 8 genes were identified that might be implicated in the disease pathogenicity. In this project, we will further establish the (causative) role of these genes in KC. We will develop a gene panel that will be screened in a population of approximately 750 KC patients and 750 ethnically-matched healthy individuals using next-generation sequencing (NGS). The comparison between both groups will allow identification of genes that are frequently mutated in KC patients. As these genes most likely play a role in the pathogenesis, identification of causative genes and their functional role in biochemical pathways will allow us to unravel the biochemical background of the disease, and form the basis for potential new forms of therapy.