Laboratory of Clinical Immunogenetics and Pharmacogenetics

Laboratory of Clinical Immunogenetics and Pharmacogenetics was founded in 2013. It conducts studies that aim to identify new markers associated with susceptibility, course of disease, response to treatment, as well as efficacy and safety of therapies.

Genetic studies, analysis of gene and expression, pro-inflammatory proteins, and miRNA are conducted on groups of patients with rheumatic diseases undergoing treatment with TNF-alpha inhibitors. Variability in genes encoding various proteins is compared, these include e.g. major histocompatibility complex molecules MICA (and its receptor NKG2D), which is analysed for presence of shared epitope HLA-DRB1.

Patients with breast cancer and haematologic diseases are studied in the context of telomere length and genetic variability of the telomerase catalytic subunit, TERT. Cell culture in vitro model is used to analyse telomere length, telomerase activity, and presence of somatic mutations (C228T and C250T) in the TERT gene promoter in the context of TERT expression.

Multiple myeloma and acute myeloid leukaemia patients are analysed in the context of genetic polymorphism and expression of basigin (CD147), a multifunctional cell membrane protein associated with, among others, transport of lactate ions across cell membrane. Pro-angiogenic protein VEGF and miRNAs are also analysed in the context of basigin expression.

The Laboratory also conduct studies on the role of NK cell receptors in haematopoietic cell transplantation.

Laboratory Head

Head: prof. dr hab. Katarzyna Bogunia-Kubik – Head of the Laboratory of Clinical Immunogenetics and Pharmacogenetics (LIKiF), https://orcid.org/0000-0001-9744-0376

Director’s biography: Prof. Bogunia-Kubik has over 20 years’ experience in immunogenetics. Her research focuses on transplant immunology/immunogenetics and searching for new markers related to susceptibility and course of disease as well as response to treatment (e.g. rheumatic or haematological disorders), and analysis of issues related to immunogenetics of ageing. The main aspects of her work are HLA and non-HLA polymorphisms studies, and expression of miRNA and other genes coding for proteins involved in regulation of immune response. She has been head of the Laboratory since 2013.

She is currently a member of: HIIET PAS Scientific Council; Wrocław Doctoral School of Institutes of Polish Academy of Sciences Council; Committee for Immunology and Aethiology of Human Infections; European Board of Transplant Immunology (EBTI) of the Division of Transplantation; Management Committee – COST CA17138: Integrated European Network on Chronic Graft Versus Host Disease (cGvHD) – EUROGRAFT;

Board of the Polish Society for Immunogenetics (past president), European Federation for Immunogenetics (EFI Executive Committee; Councillor), Wrocław Branch of the Polish Society of Experimental and Clinical Immunology (president).

Team

Assistant Professors:

Specialists and Technical Staff:

PhD Students:

Most important scientific achievements

Laboratory of Clinical Immunogenetics and Pharmacogenetics has been founded in 2013. Its most important achievements include analysis and description of the following subjects:

  • Genetic variability of genes coding for classical and non-classical histocompatibility antigens and their receptors, gene polymorphisms and expression of pro-inflammatory cytokines and miRNAs associated with susceptibility for rheumatic diseases and efficacy of biological treatment,
  • Selected factors associated with risk for disease and therapy of patients with multiple myeloma and non-small-cell lung carcinoma,
  • Telomere length, and telomerase activity and expression; studies conducted in vitro, as well as ex vivo in patients with breast cancer and haematologic diseases.

as well as obtaining funds for purchase of research equipment, including a holotomographic microscope.

Research methods
  • Genetic variability and gene expression analysis (PCR, RT-PCR, qPCR, SNP, VNTR, STR-PCR, LightSNiP)
  • Protein level analysis (Luminex assay and ELISA)
  • Flow cytometry
  • miRNA profiling
  • Digital holotomography
Key equipment
  • PCR instruments
  • real time PCR instruments
  • cytometr przepływowy
  • 8-capillary DNA sequencer
  • Luminex 200 analyzer
  • equipment for analysis and visualization of live cells using digital holotomography and the Tomocube microscope

Most important projects (during the last 10 years)
  • „Epigenomic, immunogenetic and proteomic strategies for identification of NK cell determinants of prognostic value for patients undergoing allogeneic transplantation of hematopoietic stem cells – a multicentre study”; National Science Centre grant “Opus” No: 2018/31/B/NZ2/03065 (03.10.2019-02.10.2022); project leader: prof. Katarzyna Bogunia-Kubik
  • „Determining the role of basigin in multiple myeloma and acute myeloid leukaemia development”; National Science Centre grant “Preludium” No: 2018/29/N/NZ5/02022 (28.01.2019-27.01.2022); project leader: Piotr Łacina, MSc, Eng.
  • „New compounds with anti-cancer activity that disrupt telomere functions” – Targettelo, National Centre for Research and Development grant No: STRATEGMED3/306853/9/NCBR/2017 (17.05.2017-16.05.2021); project leader: prof. Maciej Bagiński; subtask leader: prof. Katarzyna Bogunia-Kubik: Analysis of genetic variability within the telomerase catalytic unit. Workpakage 2: Determination of molecular properties of investigated telomeric systems.
  • „Looking for biomarkers of rheumatic diseases – comprehensive study of metabolomics profile, polymorphisms and expression of IL-23/Th17 pathway genes and miRNA molecules”; National Science Centre grant “Opus“ No: 2016/21/B/NZ5/01901 (07.02.2017-06.02.2021); project leader: prof. Katarzyna Bogunia-Kubik
  • „Looking for biomarkers related to rheumatoid arthritis – continuation of preliminary studies”; KNOW grant No: 39/2015/KNOW/IITD (16.10.2015-15.10.2016); project leader: prof. Katarzyna Bogunia-Kubik
  • „Initial studies on the immune response in patients with rheumatoid arthritis with different serological status”; KNOW grant No: 102/2016/KNOW IITD (5.10.2016-4.01.2018); project leader: dr Barbara Wysoczańska
  • „The role of miRNA in regulating fibrosis in systemic sclerosis”; Foundation for Polish Science grant “Homing Plus“ No: Homing Plus/2013-8/4 (1.07.2014-31.12.2015); project leader: dr Marzena Ciechomska
  • „Immunogenetic background of haematopoietic stem cells release from bone marrow into peripheral circulation in response to granulocyte colony stimulating factor (G-CSF) treatment”; National Science Centre grant “Preludium“ No: 2012/07/N/NZ6/02971 (17.06.2013-17.02.2018); project leader: Katarzyna Gębura, MSc, Eng.
  • „ The role of polymorphisms and expressions of the receptors from the CD94/NKG2 family and the HLA-E molecule in etiopathogenesis of the rheumatoid arthritis”; National Science Centre grant “Preludium“ No: 2012/05/N/NZ5/02607 (21.02.213-20.02.2016); project leader: Milena Iwaszko, MSc

Selection of other projects conducted in the Laboratory:

  • „Purchase of the 3D HT – 2 holotomographic microscope with the necessary accessories and software”; Equipment purchase grant of the Ministry of Science and Higher Education, No: 7061/IA/SP/2020; project development: dr Monika Chaszczewska-Markowska, prof. Katarzyna Bogunia-Kubik
  • “Integrated European Network on Chronic Graft Versus Host Disease (cGvHD)” – EUROGRAFT; European Cooperation in Science and Technology – COST CA17138 (13.04.2018-12.04.2022); Directed originally by Professor Anne Dickinson (Newcastle, UK), currently by Professor Marit Inngjerdingen (Oslo, Norway); prof. Katarzyna Bogunia-Kubik is a member of the Management Committee
  • „Establishment of MultiGenBank – the immunogenetic database of the Polish population”; project co-financed by the European Regional Development Fund under the Innovative Economy Operational Programme, 2007-2013, POIG.02.03.02-02-028/13 (2014-2015). dr hab. Katarzyna Bogunia-Kubik – initiator and principal investigator of the project, leader of the ImGen team
Selected publications