CASyM winter school of Systems Medicine took place between March 29th and April 1st 2017 in Ljubljana, Slovenia and is entitled »The 3rd SysBioMed hands-on tutorial: Systems Medicine Approaches in Personalized Medicine«
Familial Erythrocytosis: From Mutation Analysis to Clinical Application
Nataša Debeljak1, Irena Preložnik Zupan2
1Medical Center for Molecular Biology, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Slovenia, 2Clinical Department of Haematology, University Medical Centre Ljubljana, Slovenia
Erythrocytosis is heterogeneous group of disorders characterized by an increased mass of erythrocytes, hematocrit (Ht) and hemoglobin (Hb) in blood. It is caused by an inherited or acquired mutations or as a compensatory mechanism in some chronical disorders. Familial erythrocytosis (FE) is a group of rare congenital disorders with various genetic background . Erythropoietin receptor gene (EPOR) mutations are the indicator for primary familial erythrocytosis. Secondary familial erythrocytosis syndromes are typically associated with a defect in various genes included in oxygen sensing pathway leading to the increased erythropoietin (EPO) production, such as Von Hippel-Lindau tumour suppressor (VHL) and endothelial PAS domain (EPAS1). Latest whole-genome sequencing identified at least 21 candidate genes and variants involved in FE . Polycythemia vera (PV) is the most common acquired erythrocytosis caused by mutations in Janus kinase 2 (JAK2), routinely tested at University Medical Centre (UMC) Ljubljana and Maribor. Other genetic forms or FE are indicated as JAK2 negative and are not tested further. Recently, sequence variants of the EPO and EPOR gene associated with FE were identified and are in the process of integration into diagnostic procedures for FE in Slovenia . The aim of the current study was to extend diagnostic procedures of JAK2 negative FE and develop additional diagnostic tests. Study will determine genetic variations and frequencies of erythrocytosis in Slovenian population in correlation with clinical picture. Hussein K (2012) Eur J Hum Genet Camps C et al. (2016) Haematol Vočanec D et al. (2017) in preparation
2006 - University of Ljubljana, Faculty of Medicine, Center for Functional Genomics and Bio-chips.