Science Alert: For The First Time, Scientists Have Linked Rare Genetic Mutations to Lupus

Immunologist, Simon Jiang, and his colleagues at the Australian National University recently discovered genes occurring in less than one percent of the population, found to be responsible for the autoimmune disease, lupus. The gene variants, BLK and BANK1, lead to increased T1 IFN protein activity which impairs the normal functioning of the immune system’s B cells that produce antibodies, characteristic of people with lupus. Jiang states that this discovery has great potential for making the diagnosis of lupus easier, as the disease tends to exhibit symptoms similar to other diseases, along with contributing to the development of targeted gene therapies.

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