Benedicte A. Lie

Genetics of autoimmunity and cancer

Benedicte A. Lie<br>Group leader
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 or protein profiles to shed light on the role of the genes in the pathogenesis. We employ next generation sequencing technology in our studies.


  • Delineating the genetic and environmental risk factors in autoimmune diseases
  • Expression profiling of autoimmune risk polymorphisms in thymus
  • Refinement of all disease-relevant HLA components in autoimmune diseases
  • Establishing of a pipeline for deep sequencing of the HLA complex
  • Epigenetic studies of treatment response in rheumatoid arthritis patients
  • Validation of unclassified variants in BRCA genes by bioinformatic predictions and functional splicing assays
  • Characterization of TFPI isoforms in health versus cancer
  • Genotype-phenotype study of hemostatic parameters in breast cancer
Contact information:
Group leader Professor Benedicte A. Lie, Department of Medical Genetics, University of Oslo and Oslo University hospital, Postboks 4956 Nydalen, 0424 OSLO, Tel: 23 01 66 46, E-mail: