Lupus: Australian scientists identify genetic cause of disease in 10yo girl

Posted: Published on August 18th, 2014

This post was added by Dr Simmons

ABC Dr Julia Ellyard said the research will allow scientists to individually tailor treatment.

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.

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Lupus: Australian scientists identify genetic cause of disease in 10yo girl

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