NGS in peripheral blood and hematopoietic stem cells in SLE: Mechanisms of disease, novel therapeutic targets and biomarkers for disease activity and response to therapy

Objectives of the Project

Several types of cells are involved in SLE, all of which originate from HSC. We have used RNA Sequencing to uncover genes and their products (RNA or proteins) that can be used as markers to predict patients who may be more susceptible to certain serious manifestations of lupus as well as to interrogate the cells in the bone marrow (stem cells) to identify targets for new therapies.

Facts and Figures

Project Lead
Prof. D Boumpas
BRFAA Athens
FOREUM research grant: € 300.000
2016 - 2019

Meet the Team

Prof. D Boumpas
BRFAA Athens
Prof. G Bertsias
University of Crete
Prof. F Hiepe
Prof. C Pamfil
University of Medicine and Pharmacy
Prof. L Rönnblom
Uppsala University
Prof. T Vyse
Guy's Hospital, King's College

Interim Results

We have identified a set of genes, whose expression will be tested for their ability to measure / predict the lupus activity, organ damage, severity and type of organ involvement, response to therapy and risk of flares as well as comorbidities. We have defined novel genes in the bone marrow HSC in lupus mice  that dictate their aberrant behavior in lupus.


  • Grigoriou M, Anastasiou M, Verginis P, Pavlidis P, Nikolaou C, Bertsias G, Boumpas D T, Banos A. Rna-seq profiling of hematopoietic stem cells in murine systemic lupus erythematosus (sle): validation and functional characterisation. Ann Rheum Dis 2017;76:A57-A58.
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  • A Banos, M Grigoriou, P Verginis, P Pavlidis, G Bertsias, DT Boumpas. Transcriptome profiling by next generation sequencing of hematopoietic progenitors in murine systemic lupus erythematosus (SLE). Ann Rheum Dis 2016;75:A50.
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  • Bertsias G, Panousis N, Gergiannaki I, Tektonidou M, Trachana M, Banos A, Fanouriakis A, Pamfil C, Dermitzakis E, Boumpas D . Molecular characterization of SLE by RNA-Seq; Identification of genes and expression – quantitative trait loci contributing to pathogenesis, severity and tissue susceptibility  Clin Exp Rheumatol. 2016; 34(4): Suppl.99: S-49.
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  • Banos A, Grigoriou M, Verginis P, Nikolaou C, Pavlidis P, Dermitzakis E, Bertsias G, Boumpas D. Transcriptome profiling by Next Generation Sequencing of hematopoietic progenitors in murine Systemic Lupus Erythemathosus. Clin Exp Rheumatol. 2016; 34(4): Suppl.99: S-49.
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  • Bertsias G, Panousis N, Gergianaki I, Tektonidou M, Trachana M, Pamfil C, Fanouriakis A, Dermitzakis E, Boumpas D. The genomic architecture of Systemic Lupus Erythemathosus (SLE) by RNA-seq: Distinct disease susceptibility, activity and severity signatures and extensive genetic effects on whole blood gene expression. Abstract EULAR 2017, Madrid – accepted as Oral Presentation.
  • Nikolaos I Panousis, George Bertsias, Halit Ongen, Irini Gergianaki, Maria Tektonidou, Maria Trachana, Luciana Romano-Palumbo, Deborah Bielser, Cedric Howald, Cristina Pamfil, Antonis Fanouriakis, Despoina Kosmara, Argyro Repa, Prodromos Sidiropoulos, Emmanouil T Dermitzakis, Dimitrios T Boumpas.Genomic dissection of Systemic Lupus Erythematosus: Distinct Susceptibility, Activity and Severity Signatures. bioRxiv  255109; currently under review