|2018 -||PhD candidate||Amsterdam UMC|
|2015-2017||Master of Biomedical Sciences||Vrije Universiteit Brussel, Belgium|
|2012-2015||Bachelor of Biomedical Sciences||Vrije Universiteit Brussel, Belgium|
Osteogenesis Imperfecta (OI) is a rare, genetic disorder of bone fragility. Patients may additionally show variable presentation of skeletal deformity, short stature, dentinogenesis imperfecta, hearing loss and blue sclerae. In approximately 90% of the patients, OI is caused by mutations in the COL1A1 or COL1A2 genes which produce collagen type I, the most abundant protein in the bone tissue. My research project is focused on the development of a new therapy for OI. Current treatments are symptomatic and not specifically designed to target the molecular defect in OI. My project focuses on a therapy that specifically targets the molecular cause of OI with a combination of pharmacological and gene therapy approaches.
Department of Clinical Genetics, Amsterdam UMC - location VUmc