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Systemic Diseases

The Systemic Diseases group performs translational research based on at least 300 patients with systemic lupus erytomatosus (SLE), antiphospholipid syndrome (APS), systemic sclerosis, vasculitis, dermatomyitis, Sjörgen syndrome or autoinflammatory syndromes in order to better understand their pathogenesis (both at the immunological and genetic regulation level), study their clinical and biological expression (through the detection of new markers that help characterize each of the autoimmune diseases), study morbimortality (through epidemiological studies) and analyse patients' response to medications. With these goals in mind, we seek to improve the diagnosis, clinical monitoring, and prognosis of our patients.

Research lines

DNA methylation study in Systemic Lupus Erythematosus (SLE) patients.

DNA is hypomethylated in T cells from SLE patients. It may lead to an increase in the expression of some genes that are usually silenced and, consequently, autoimmune phenomena may develop. On the other hand, this "unprotected" DNA could be the responsible for triggering anti-DNA antibodies. To find out the reason why this DNA hypomethylation is taking place, we have evaluated the expression level of different DNA methylases and demethylases. We have observed that two demethylases (MBD2 and MBD4) are overexpressed in T CD4+ lymphocytes of patients with SLE. We are now studying the effect the overexpression of these proteins may have in the expression regulation of different molecules involved in the immunologic response.

IP: Eva Balada Prades

Infection and Autoimmunity: relevance of Human Endogenous Retrovirus (HERV) in Systemic Lupus Erythematosus (SLE).

Antibodies against HERVs have been detected in patients suffering from some autoimmune diseases such as SLE, rheumatoid arthritis, Sjögren's syndrome, and multiple sclerosis. We mainly focus our research on trying to detect these antibodies in our patients affected with SLE. We have recently cloned some recombinant proteins specific for HERVs. We are simultaneously evaluating the transcription levels of several HERV proteins in T CD4+ lymphocytes from SLE patients.

IP: Eva Balada Prades

Study of IFN-gamma/STAT and TGF-beta/SMAD pathways in lupus patients with skin involvement. Role in the evolution to fibrosis.

With this project we aim at studying the status of the IFN-gamma/STAT and the TGF-beta/Smad intracellular signal pathways in cutaneous biopsies of patients with lupus. We are now analyzing the expression of several molecules involved in these pathways to be able both to discern the main differences among the different types of cutaneous lupus and to interpret the residual fibrotic lesions observed in discoid lupus.

IP: José Ordi Ros

Blog

News

A Vall d’Hebron team demonstrates, for the first time, the potential of optical genome mapping to detect genetic alterations associated with this rare disease that are not identified using conventional methods.

The study describes the first documented case worldwide of hereditary angioedema transmission through assisted reproduction.

15 researchers from the Rheumatology, Systemic Diseases and the Physiology and Pathophysiology of the Digestive Tract groups gave around 25 presentations.