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

• Immunogenetic studies of ME/CFS and autoimmune diseases with particular focus on HLA and KIR genes
• Single cell profiling of immune cells in thymus to understand the establishment of self-tolerance and development of myasthenia gravis
• Single immune cell phenotyping of blood and cerebrospinal fluid in ME/CFS and narcolepsy
• Multiomic studies of immune cells with regards to disease activity and treatment response in rheumatoid arthritis and other autoimmune phenotypes
• Exploring the phenotype of the immunological cells infiltrating the joint tissue and synovial fluid of the juvenile idiopathic arthritis patients by single cell technologies 
• Characterizing extracellular vesicles and their protein cargo in immunological diseases
• Revealing biomarkers in blood for autoimmune diseases and treatment response
• Functional genomic studies of chronic low back pain patients with modic changes and response to antibiotic treatment

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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