Researchers have used DNA sequencing to unlock the genetic cause of the autoimmune disease lupus in a 10-year-old girl, in a discovery that could allow doctors to target specific treatments to individual patients.
Subscribe now for unlimited access.
$0/
(min cost $0)
or signup to continue reading
Medical researchers at the Australian National University's Centre for Personalised Immunology sequenced the genes of a young Sydney girl and managed to discover the genetic cause of her severe lupus disease.
The girl had suffered a stroke at the age of four because of her lupus, but this new discovery could mean doctors are now able to target her specific disease and potentially find treatments for her.
Lupus is a chronic autoimmune disease which occurs when auto-antibodies mistakenly attack a body's healthy tissue, such as joints, skin, the lining of the heart, lungs, blood and kidneys. It affects about one in 700 people but symptoms can vary from person to person.
Lead researcher Dr Julia Ellyard from ANU's John Curtin School of Medical Research said using DNA sequencing in the girl, researchers were able to find a mutation in a particular gene that was causing her disease.
Dr Ellyard said the girl had a type of lupus which caused inflammation in the blood vessels in her brain.
"The mutation was in a gene called TREX1 and without that protein or gene functioning properly, the body's cells made too much of a molecule called interferon-alpha. Interferon-alpha induces inflammation and that was what was driving her disease," she said.
"What's particularly exciting for this little girl is that there are already drugs that target this particular molecule... that are currently in clinical trials in adults."
Dr Ellyard said it opened the door to a possible treatment for the girl.
Dr Ellyard said the research had shown it was possible to use DNA sequencing to unravel the genetic causes of lupus in individual patients.
"If we can understand the genetic causes in any one patient, then we can tailor their therapies and perhaps give them better disease management and, or cures depending on what is involved in the type of disease," she said.
Centre for Personalised Immunology co-director Professor Carola Vinuesa said research showed lupus was primarily caused by defects in only one or a few genes.
"We believe that there are different genetic causes of lupus. Understanding these defective genes and pathways in each individual will help tailor treatments,” she said.
