Research focus of the Department of Rheumatology

Systemic sclerosis

Systemic sclerosis is an autoimmune, fibrotic multisystem disease. We use this disease as a model to understand the mechanisms of fibrosis in skin and lung diseases. We are also interested in the vascular diseases that contribute to fibrosis in systemic sclerosis. We are particularly interested in non-coding RNA, including microRNA and long non-coding RNA. We use 2D and 3D cultures as well as animal models to understand and characterize the mechanisms of fibrosis. Our overarching goal is to develop new therapies for fibrotic diseases.

Rheumatoid arthritis

Rheumatoid arthritis is a chronic systemic inflammatory disease that primarily affects the joints. It affects approximately 1% of the population and occurs primarily in people between the ages of 40 and 60. Women are three times as likely to be affected as men. The causes of the disease are unknown. Genetic and environmental factors (especially smoking) contribute to the development of the disease. The immune system is activated and triggers inflammation in the joints (synovitis). If left untreated, this inflammation leads to joint destruction and, as a result, impaired function. Various immunosuppressants are available for the treatment of rheumatoid arthritis; in most cases, they can suppress inflammation and halt joint damage. However, in about one-third of patients, these medications are ineffective or lose their effectiveness over time. To find better treatment options or even prevent the disease from developing, further research into the underlying mechanisms is needed.

Spondyloarthritis/Psoriatic Arthritis

Spondyloarthritis is a group of inflammatory rheumatic diseases that affect the axial skeleton (spine and sacroiliac joints), the peripheral joints and the tendon insertions. Genetic factors, such as the association with the HLA-B27 antigen, and environmental factors play a role in the development of these diseases, regardless of whether they are axial or predominantly peripheral spondyloarthritides. Uncontrolled repair processes after the inflammation has subsided can lead to increased osteogenesis and osteoproliferation. As the disease progresses, function and mobility can be significantly impaired.

Psoriatic arthritis is a form of spondyloarthritis and affects 20–30% of people with psoriasis. Symptoms include peripheral arthritis, dactylitis, and enthesitis. A significant proportion of patients also experience inflammation of the spine and the sacroiliac joints. Collaboration with dermatologists is essential for the effective treatment of this disease.

Rheumatoid arthritis is a chronic systemic inflammatory disease that mainly affects the joints. It affects around 1% of the population, with the highest incidence between the ages of 40 and 60. Women are affected three times more often than men. The exact causes of the disease are not yet known, but both genetic and environmental factors, particularly smoking, contribute to its development. The activated immune system triggers inflammation in the joints (synovitis). If left untreated, this inflammation can lead to joint destruction and functional impairment.

The research groups led by Adrian Ciurea and Raphael Micheroli collaborate closely across the entire field of inflammatory joint diseases.

Vasculitis

Vasculitides are diseases with chronic inflammation of blood vessels of various sizes, which in many patients require long-term immunosuppressive therapy to prevent severe irreversible organ damage or even organ failure. The clinical symptoms differ depending on which vascular areas and organs are affected. As all tissues in the body are supplied with nutrients and oxygen via blood vessels, many different tissues can be affected and damaged, from internal organs such as the lungs or kidneys to the nervous system, skin and eyes.

Other Connective Tissue Disorders

Systemic rheumatic diseases, such as systemic sclerosis (SSc), Sjögren’s disease (SjD), and Ehlers-Danlos syndrome (EDS)/Hypermobility Spectrum Disorder (HSD), are complex conditions that affect multiple organ systems. In SSc, fibrosis of the skin and internal organs, particularly the lungs, can lead to severe complications such as interstitial lung disease (ILD) and pulmonary hypertension (PH). SjD primarily targets the exocrine glands, causing the hallmark symptoms of dry eyes and mouth, but it can also involve other organs such as the lungs, the kidneys, and nervous system, with an increased risk of lymphoma in severe cases. EDS, characterized by connective tissue abnormalities, often results in joint hypermobility, skin fragility, and vascular complications.

Metabolic Regulation of Inflammation

Metabolic pathways play a crucial role beyond energy production and serve as important regulators of immune cell function. They influence how immune cells develop, activate, differentiate, and respond to stimuli. Dysregulation of the metabolism of immune cells can disrupt immune homeostasis and contribute to chronic inflammation, loss of self-tolerance, and the onset or progression of autoimmune diseases. A better understanding of these metabolic disorders has the potential to reveal how metabolic imbalances promote autoimmunity and to identify new therapeutic strategies for treating autoimmune diseases.

Lower Back Pain

The “Global Burden of Disease Study” has identified back pain as the condition that causes the most disability worldwide. Back pain is associated with lesions in the vertebral bone marrow known as Modic changes, also referred to as activated osteochondrosis. Modic changes are common in patients with lower back pain, yet they remain a poorly understood degenerative spinal condition. Patients with Modic changes cannot be treated appropriately because, first, they cannot be identified in primary care due to a lack of diagnostic tools, and second, there are no targeted treatments available for Modic changes.

CRPS

Complex regional pain syndrome (CRPS) is a condition characterized by extreme pain affecting a part of the body, along with clinical features such as chronic inflammation, sensory and motor dysfunction, and changes in the skin and bones. Symptoms usually appear after an injury or surgery. Current treatments are mostly symptomatic and do not address the underlying disease mechanisms.

Biomedical Data Science

Since many molecular biology laboratories and clinical research groups use modern AI systems in their workflows, we need tools that quantify their uncertainty in order to comply with scientific standards. In the past, we have relied on the statistical quantification of uncertainty in the form of p-values and confidence intervals. These figures were provided in nearly every publication, allowing us to assess the credibility of a research finding. This common statistical terminology—even if it is not without controversy—allowed us to focus our resources on the most promising discoveries. How can we quantify the degree of our surprise at a discovery in a similar way using modern predictive models? This is a typical question that biomedical data science seeks to solve by applying concepts from statistics and computer science.