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Major breakthrough identifies cause and treatment of fatal autoimmune disease

Research Fellow in Molecular Biology, Dr Rune Busk Damgaard, is member of a team of researchers who have identified the cause and treatment of fatal autoimmune disease. The disease, now named OTULIN related autoinflammatory syndrome (ORAS), was discovered by doctors treating patients who developed symptoms such as rashes, fever, and diarrhoea shortly after birth. The immune system of these patients spontaneously activates and starts to attack the patient’s own body leading to the described symptoms and eventually to the child’s death. 

Doctors performed extensive investigations describing the symptoms and analysing patients, but the origin of the disease remained obscure for years. Now, as a result of collaborative research involving the groups of David Komander and Andrew McKenzie in the LMB’s PNAC Division, Professor Eamonn Maher’s group in the Department of Medical Genetics, University of Cambridge and colleagues at the University of Birmingham, the cause and treatment of this disease has been discovered. More information here.