
Project description
Epidermolysis bullosa simplex (EBS) is a rare genetic disease, involving mutation in the keratin genes. Therefore, there is a failure of keratinization, which affects the integrity and ability of the skin to withstand stress conditions by causing localized skin blistering and hyperpigmentation, among other clinical manifestations. Some gene expression studies have been performed to better understand this disease, however, there still remains many questions about the different physiopathological effects associated to this disease, including metabolomic signature and stress responses.
Through collaboration with Catherine Laprise (UQAC) in genomics and rare diseases, we will have privileged access to clinically relevant cell lines. The first analysis would be an untargeted metabolomics assay by LC-HRMS/MS to access hundreds, if not thousands, of metabolites. In addition, we will use derivatization chemistry to study polar metabolites that are difficult to analyze with traditional chromatographic techniques. This will also allow us to introduce the use of isotopic labeling for quantitative purposes
Research team
Name: Ons Ousji, M.Sc
Supervisor: Lekha Sleno (UQAM)
Laureate: Doctoral scholarship 2018