ANU scientists identify genetic cause of lupus in girl

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Scientists from the Australian National University (ANU) have been able to identify the genetic cause of lupus in a specific individual for the first time.

Lead researcher from the ANU, Dr Julia Ellyard, said scientists have used personalised medicine to identify the cause of the autoimmune disease in a 10-year-old girl.

Lupus causes various tissues in the body to become inflamed, swollen and painful.

The disease can affect the skin and joints of a patient, but can also target major organs.

While it has been previously known that there are genetic causes for the disease, it is not known what triggers lupus.

It might be triggered by injury, illness or a period of stress.

“Using DNA sequencing, the approach we’ve taken, we’ve been able to identify the specific cause of this child’s disease,” Dr Ellyard said.

“(It is an) increased amount of a particular molecule, called interferon-alpha, being produced.”

Dr Ellyard said while any treatment would target the girl’s specific condition, it could lead to new ways of treating other people with lupus.

“We’re hoping that now this girl can have specialised treatment using anti-interferon therapies, which are currently in clinical trials,” she said.

“Now we are able to tailor treatment for her disease.”

There are several varieties of lupus, which range from potentially life threatening, to mild and treatable.

“Lupus is what we like to call a ‘grab bag’ disease, the spectrum is quite wide, and people can have very different symptoms,” Dr Ellyard told 666 ABC Canberra.

One in 700 people in Australia suffer from lupus.