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) 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, all the way down to single cell level and also by screening the extracellular vesicles. 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, and we are continuously implementing the newest molecular methods to reveal the genetic dispositions of autoimmunity.

Photos: Bård Gudim AS

• 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
• Exploring the phenotype of the immunological cells infiltrating the joint tissue of the juvenile idiopathic arthritis patients by transcriptome profiling both the synovial fluid and tissue. 
• Multiomic studies of disease activity and treatment response in rheumatoid arthritis and other phenotypes

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

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