Sjögren’s disease
Sjögren’s disease is an inflammatory systemic disease characterized by inflammation in the salivary and lacrimal glands resulting in ocular and oral dryness. A debilitating fatigue is also common. About a third of the patients present with a more severe disease engaging e.g. lungs or kidneys, and some patients have an increased risk of lymphoma. The etiology of Sjögren’s disease is multi-factorial where genetic, immunological and environmental factors are thought to play a role, but the underlying molecular mechanisms remain to a large extent elusive.
Project description
The aim of our research is to identify molecular risk factors for the development of Sjögren´s disease, and identify those patients that have an increased risk of organ manifestations or lymphoma.
The Scandinavian Sjögren´s disease network is coordinated by Gunnel Nordmark and involves researchers from several centers in Sweden, Norway and Denmark. Within the network more than a thousand well characterized patients with Sjögren’s disease have been included with DNA, RNA, serum, cells and minor salivary gland biopsies. Through studies of this unique cohort and biobank our aim is to identify novel risk genes and develop a polygenic risk score for disease development, organ manifestations and lymphoma. Further, we analyze epigenetic regulation, gene expression in different cell populations and single cells, as well as the protein profiles in sera. The inflammatory infiltrates in the minor salivary gland biopsies is another area of investigation.
The goal is to understand disease pathogenesis and define biomarkers for different subgroups of patients, with the aim of improving treatment, follow up and prognosis to bring precision medicine to patients with Sjögren’s disease.
Minor salivary gland biopsy with focal lymphocytic infiltrates in Sjögren’s disease.
Collaborative partners
- Stratified Medicine in primary Sjögren’s syndrome, PI: Wan-Fai Ng, Newcastle University, UK.
- Big data, PI: Manuel Ramos-Casals, Barcelona, Spain.
- SGENE, Sjögren genetics network, PI: Chris Lessard, Oklahoma, USA.
- NECESSITY, New clinical endpoints in patients with primary Sjögren´s syndrome, PI: Xavier Mariette, Paris, France.