TranSYS Training School 24th November 09.15

Prof. Dr. Nataša Debeljak

Leader of EPO research group

Medical Centre for Molecular Biology, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Slovenia

Tuesday 24th November 2020  09.15 CET

Challenges in the Introduction of NGS in Haematology

Abstract: In haematology, next-generation sequencing (NGS) is used for diagnosis of acquired myeloid malignancies, less frequently for rare inherited genetic diseases. Erythrocytosis is a disorder with an excessive number of red blood cells. Due to its complexity, diagnosis is problematic and the cause of disease often remains unidentified. However, a distinctive characterization of erythrocytosis in the individual patient is crucial to provide effective care. We updated the national diagnostic algorithm to define the cause of erythrocytosis in previously undiagnosed patients and performed NGS genetic testing using a panel with an extended selection of hereditary erythrocytosis and hereditary hemochromatosis associated genes. Heterozygous missense substitution c.1609G>A (rs137853036), causative for congenital erythrocytosis type 4 (ECYT4), was identified in EPAS1 gene of one patient. The remaining patients carried no disease-driver variants known in the literature till now and are subjected to further functional analysis of novel variants.

Key references:

Kristan A, Debeljak N, Kunej T. Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases. Eur J Haematol. 2019 Oct;103(4):287-299. doi: 10.1111/ejh.13304. PMID: 31376207.

Dobovišek L, Krstanović F, Borštnar S, Debeljak N. Cannabinoids and Hormone Receptor-Positive Breast Cancer Treatment. Cancers (Basel). 2020 Feb 25;12(3):525. doi: 10.3390/cancers12030525. PMID: 32106399.


Nataša Debeljak is an Associate Professor at the Faculty of Medicine University of Ljubljana and teaches in the field of Biochemistry & Molecular biology & Functional Genomics. As Senior Research Fellow at Medical Centre for Molecular Biology, she focuses on the molecular mechanism of erythropoietin and related pathologies, including rare blood disorder Familial Erythrocytosis. She is PI of the national research project Genetic basis of erythrocytosis in Slovenia with the aim to establish a NGS-based diagnosis of Familial Erythrocytosis. She is a mentor for PhD and MSc students. As a member of the MPN&MPNr (, she is cooperating with experts working in the field of myeloproliferative neoplasms and hereditary erythrocytosis.