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Insights into how a rare disease develops

Using studies in mice and patients, researchers have discovered what triggers a rare, severe autoimmune disease.

ANCA-associated vasculitis, causes severe inflammation of blood vessels in the lungs often leading to fatal pulmonary haemorrhages and also kidney failure – see video.

Now researchers at the Institute of Molecular Medicine and Experimental Immunology at Bonn University Hospital, together with colleagues from Germany, Netherlands, Switzerland and the UK, have discovered a mechanism that leads to the onset of the disease.

In experiments with mice the researchers were able to show that symptoms, such as pulmonary haemorrhage, improve when the signalling pathway is blocked with drugs.

"By better understanding the molecular processes of severe ANCA vasculitis, we have been able to identify potential drug targets in the preclinical model that are already approved for other diseases," said Prof Natalio Garbi.

The study included researchers from EARA members the University Hospital Aachen, the Helmholtz Center Munich, the Max Planck Institute for Neurobiology Martinsried, in Germany, and the University of Maastricht, Netherlands.

The results are now published in the Journal of Experimental Medicine.

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