Benedicte A. LieGenetics of autoimmunity and cancer

Benedicte A. Lie
Group leader

Our research is focused on understanding the genetic mechanisms of autoimmune diseases (including rheumatoid arthritis, type 1 diabetes and multiple sclerosis) and cancer (mainly breast cancer) through studies of DNA, RNA, epigenetics, proteins and cells. We investigate large and well-characterized patient cohorts to unravel genetic predisposition, as well as the influence of genetic risk factors on clinical outcome. Additionally, we explore the relationship between genetic risk polymorphisms and environmental risk factors. Furthermore, the genetic studies are complemented by functional studies of RNA expression, epigenetic modifications or protein profiles to shed light on the role of the genes in the pathogenesis. We utilize high throughput sequencing in our studies.

The group is part of the K.G. Jebsen Center for Inflammation Research.

Research projects

  • Delineating the genetic and environmental risk factors in autoimmune diseases
  • Transcriptome profiling of immune cells in thymus with focus on autoimmune risk loci
  • Genetic studies of the HLA complex
  • Quantitative assessment of expression levels of HLA alleles
  • Epigenetic (methylation and microRNA) and transcriptomic studies of disease activity and treatment response in rheumatoid arthritis and other phenotypes
  • Validation of breast cancer variants in BRCA genes by functional studies
  • Characterization of coagulation factors in health vs cancer
  • Genotype-phenotype study of hemostatic parameters in cancer and thrombosis

Contact information:
Group Leader Benedicte A. Lie, Department of Medical Genetics, Tel: +47 23 01 66 46