Laboratory of Genetics and Epigenetics of Human Diseases


The Laboratory of Genetics and Epigenetics of Human Diseases (LGEHD) was established in July 2020.  The primary research topic of our Laboratory is genetic and epigenetic control of immune response (with a special focus on immune checkpoints) in the development, progression and response to treatment in human diseases. The laboratory also conducts research on the genetics of hematologic disorders and research on potential markers affecting the outcome of patients after hematopoietic stem cell transplantation.




In particular, our studies concentrate on:


  • investigation of inherited variations within genes regulating the immune response in relation to the risk of developing cancer, autoimmune and other diseases;
  • searching for new diagnostic biomarkers and studying their relationship with the risk of developing and the course of cancer, autoimmune and other diseases;
  • evaluation of the relationship between epigenetic modifications (e.g. DNA methylation and miRNA) and the risk of disease development and progression;
  • searching for biomarkers of response to immunotherapeutic treatment;
  • examination of the functional relevance of inherited genetic variants, miRNA function

We conduct our research projects in cooperation with other research centers and medical facilities, including the Department of Pulmonology and Lung Oncology of Wroclaw Medical University and Lower Silesian Center of Oncology, Pulmonology and Hematology.

Thanks to inter-center cooperation with Lower Silesian Center for Oncology, Pulmonology and Hematology three implementation doctorates are carried out in our Laboratory from 2022.

Currently, 6 research grants are being carried out in the Laboratory:


Grant OPUS 17 financed by the National Science Centre: “The immune checkpoints in non-small cell lung cancer-research on genetic and epigenetic mechanism regulating mRNA and protein expression” principal investigator: Monika Jasek MSc, PhD, DSc; 2 257 528 PLN (2020-2023) (grant No. 2019/33/B/NZ5/03029)

The National Science Centre Grant OPUS 17: ”The immune checkpoints in non-small cell lung cancer-research on genetic and epigenetic mechanism regulating mRNA and protein expression” principal investigator: Monika Jasek PhD; 2 257 528 PLN (2020-2023) (grant No. 2019/33/B/NZ5/03029)

MINIATURA 6 grant funded by the National Science Center (2022-2023): “Immunogenicity of COVID-19 vaccination and infection in patients with hematopoietic malignancies”, principal investigator Emilia Jaskuła PhD

Implementation PhD founded by Ministry of Higher Education: “Diagnostic, prognostic and therapeutic significance of tissue damage markers in graft-versus-host disease in patients after allogeneic hematopoietic cell transplantation” PhD student Marta Szyca-Smieszniak, supervisor  Lidia Karabon PhD

Implementation PhD founded by Ministry of Higher Education: “Diagnostic, prognostic and therapeutic significance of studies of the somatic hypermutation status of the immunoglobulin heavy chain variable (IGHV) region in chronic lymphocytic leukemia,” PhD student Iga Jendrysik, supervisor Lidia Karabon PhD.

Implementation PhD founded by Ministry of Higher Education: “Prognostic and therapeutic significance of TP53 gene mutation and 17p deletion studies in chronic lymphocytic leukemia”, PhD student Anna Sobczyńska-Konefał MD, supervisor Monika Jasek PhD.

Laboratory Head

Head: Lidia Karabon MSc, PhD, DSc (Associate Professor, 0000-0001-8172-0971)

Education: XIV High School in Wroclaw, Wroclaw University of Science and Technology, Faculty of Chemistry; PhD degree 2003 and habilitation 2012 in IIET PAS;

Employment: 1988-1991 Wroclaw University of Science and Technology, Faculty of Chemistry; 1991-2001 K. Dluski Hospital, Bone Marrow Transplantation Unit; 2002-2005 Lower Silesian Centre for Cellular Transplantation, head of the HLA Laboratory; since 2006, IIET PAS;

International internships: 2001-Medical University, Vienna, Austria-1 month; LifeCodes Company Stamford, USA-1 week; 2004-University of Pennsylvania School of Medicine, Philadelphia, USA-1 year; 2016-Institute of Gene Biology, RAS Russia-3 months; 2018-University of Thessaly, Greece-1 week.

Author of 64 publications from the JCR list, including: PlosOne, Frontiers in Immunology, Journal of Immunology Research, Cancers (Basel), Cells, Frontiers of Genetics, Leukemia, Bone Marrow Transplantation, British Journal of Hematology, Immunology, Immunology Letters, Immunogenetics, Nucleic Acid Research, Journal of Neuroimmunology, Urological Oncology;

Membership in Societies:

European Federation for Immunogenetics; Polish Society for Immunogenetics (President 2014-2022, currently Board Member); Polish Society of Fundamental and Clinical Immunology; married, 4 children, hobbies: movies, trips, ceramics

Team

Associate Professor:

Assistant Professor:

Specialists and Technical Staff:

PhD Students:

Research methods

Molecular biology

  • genotyping of single nucleotide polymorphisms (RFLP-PCR, HRM, TaqMan Probes, ARMS-PCR)
  • gene sequencing and gene expression determination with the use of NGS sequencing
  • methylation study (MS-HRM, pyrosequencing)
  • gene expression (RT-qPCR, ddPCR)
  • miRNA expression (RT-qPCR, ddPCR)
  • gene and miRNA silencing (siRNA, As-OND)
  • promoter activity studies (luciferase assay)
  • study of miRNAs function in the regulation of gene expression (luciferase assay)
  • protein level determination (ELISA, Western Blot, Luminex, Flow Cytometer, Immunohistochemistry)

Cell culture

  • culture of cell lines and mononuclear cells from human blood
  • cell transfection and transduction (lipotransfection, nucleofection, lentiviral transduction)
  • functional assays (CFSE assay, ADCC assay, apoptosis assay)

Most important projects (during the last 10 years)
  • The National Science Centre Grant OPUS 17: ”The immune checkpoints in non-small cell lung cancer-research on genetic and epigenetic mechanism regulating mRNA and protein expression” principal investigator: Monika Jasek PhD; 2 257 528 PLN (2020-2023) (grant No. 2019/33/B/NZ5/03029)
  • MINIATURA 6 grant funded by the National Science Center (2022-2023): “Immunogenicity of COVID-19 vaccination and infection in patients with hematopoietic malignancies”, principal investigator Emilia Jaskuła PhD
  • Implementation PhD founded by Ministry of Higher Education: “Diagnostic, prognostic and therapeutic significance of tissue damage markers in graft-versus-host disease in patients after allogeneic hematopoietic cell transplantation” PhD student Marta Szyca-Smieszniak, supervisor  Lidia Karabon PhD
  • Implementation PhD founded by Ministry of Higher Education: “Diagnostic, prognostic and therapeutic significance of studies of the somatic hypermutation status of the immunoglobulin heavy chain variable (IGHV) region in chronic lymphocytic leukemia,” PhD student Iga Jendrysik, supervisor Lidia Karabon PhD.
  • Implementation PhD founded by Ministry of Higher Education: “Prognostic and therapeutic significance of TP53 gene mutation and 17p deletion studies in chronic lymphocytic leukemia”, PhD student Anna Sobczyńska-Konefał MD, supervisor Monika Jasek PhD.
  • The project financed by the Hr. Potocki Foundation “The influence of genetic variations in genes coding PD-1/PD-L1 on the risk of kidney cancer and the course of disease” principal investigator: Lidia Karabon PhD; 95 000 PLN (2020-2021)
Selected publications
  • Moksud N, Wagner M, Pawełczyk K, Porębska I, Muszczyńska-Bernhard B, Kowal A, Wiśniewski A, Kossacka M, Kończak J, Karpiński P, Frydryk D, Andrzejczak A, Karabon L, Kuśnierczyk P, Jasek M. Common inherited variants of PDCD1, CD274 and HAVCR2 genes differentially modulate the risk and prognosis of adenocarcinoma and squamous cell carcinoma. J Cancer Res Clin Oncol. 2023. DOI: 10.1007/s00432-023-04602-8
  • Andrzejczak A, Partyka A, Wiśniewski A, Porębska I, Pawełczyk K, Ptaszkowski K, Kuśnierczyk P, Jasek M and Karabon L. The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers. Front Immuno. 2023, 13:1006639. DOI: 10.3389/fimmu.2022.1006639
  • Andrzejczak A, Tupikowski K, Tomkiewicz A, Małkiewicz B, Ptaszkowski K, Domin A, Szydełko T, Karabon L. The Variations’ in Genes Encoding TIM-3 and Its Ligand, Galectin-9, Influence on ccRCC Risk and Prognosis. Int J Mol Sci. 2023, 24(3):2042. DOI: 10.3390/ijms24032042
  • Andrzejczak A, Witkowicz A. Kujawa D, Sypnik D, Szulińska M, Bogdański P, Łaczmanski Ł and Karabon L. NGS Sequencing Reveals New UCP1 Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study. Genes. 2023, 14(4):789.  DOI: 10.3390/genes14040789
  • Dinas PC, Nintou E, Vliora M, Pravednikova AE, Sakellariou P, Witkowicz A, Tomkiewicz A, Karabon L et al. Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and Metabolic Health. PLOS ONE. 2022, 17.  DOI: 10.1371/journal.pone.0266386
  • Gomułka K, Liebhart J, Jaskuła E, Mędrala W. Influence of vascular endothelial growth factor on neutrophil activation in asthmatics. Adv Dermato Allergo. 2022, 39:275–80. DOI: 10.5114/ada.2022.115888
  • Karabon L, Andrzejczak A, Ciszak L, Tomkiewicz A, Szteblich A, Bojarska-Junak A, et al. BTLA expression in CLL: Epigenetic regulation and impact on CLL B cell proliferation and ability to IL-4 production. Cells. 2021, 10:3009. DOI: 10.3390/cells10113009
  • Wagner M, Jasek M, Karabon L. Immune Checkpoint Molecules – Inherited Variations as Markers for Cancer Risk. Front Immuno. 2021, 11:606721. DOI: 10.3389/fimmu.2020.606721
  • Wagner M, Tupikowski K, Jasek M, Tomkiewicz A, Witkowicz A, Ptaszkowski K, Karpiński P, Zdrojowy R, Halon A, Karabon L. SNP-SNP interaction in genes encoding PD-1/PD-L1 axis as a potential risk factor for clear cell renal cell carcinoma. Cancers. 2020, 12:3521. DOI: 10.3390/cancers12123521
  • Jasek M, Bojarska-Junak A, Sobczyński M, Wagner M, Chocholska S, Roliński J, Wołowiec D and Karabon L, “Association of Common Variants of TNFSF13 and TNFRSF13B Genes with CLL Risk and Clinical Picture, as well as Expression of their Products-APRIL and TACI Molecules” Cancers (Basel). 2020 Oct 6;12(10):E2873. doi:10.3390/cancers12102873. PMID: 33036273
Key equipment

Molecular biology research equipment

  • QX200 Droplet Digital PCR System (BioRad)
  • ViiA 7 Real-Time PCR System (Applied Biosystems)
  • Image evaluation and archiving workstation (UVITEC camera + computer)
  • Thermocycler T-100 (BioRad)
  • Centrifuge 5810R (Eppendorf)
  • Horizontal electrophoresis set
  • Vertical electrophoresis set and wet transfer accessories
  • Liquid nitrogen tank with equipment

Equipment for cell biology research

  • Laminar BIO 130 (Alpina)
  • Nu-5831 incubator (Biogenet)
  • Centrifuge 5810R (Eppendorf)