[504] Translational Research on Disorders of Hemostasis and Thrombosis
We are studying genetic disorders of hemostasis and thrombosis, applying the results of whole exome sequencing and functional analyses in transfected cells, zebrafish animal models and patient samples towards a personalised approach to treat these disorders. Our main interest is in fibrinogen deficiencies, both quantitative and qualitative. We investigate the molecular mechanisms by which fibrinogen gene mutations lead to disease and other mechanisms influencing the variable phenotypes of patients, including modifying gene polymorphisms. Finally, we are studying novel mechanisms determining fibrinogen levels in the circulation, a project which is clinically relevant since a high fibrinogen level is an independent risk factor for cardiovascular disease.