Benedicte A. Lie Genetics 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), diseases with a putative autoimmune component (CSF/ME and low back pain with modic changes) 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
  • Immunogenetic studies of CFS/ME
  • Functional genomic studies of chronic low back pain patients with modic changes and response to antibiotic treatment
  • Epigenetic (methylation and microRNA) and transcriptomic studies of disease activity and treatment response in rheumatoid arthritis and other phenotypes
  • Characterization of coagulation factors role in cancer
  • Hemothrombogenomics: Delineating the genetic cause in patients with inherited bleeding or thrombotic disease

Contact information:
Group Leader Benedicte A. Lie, Department of Medical Genetics, Tel: +47 23 01 66 46
E-mail: b.a.lie@medisin.uio.no