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New childhood autoimmune disease discovery may hold key to new treatments

Research News
Wednesday, August 26, 2015 - 2:00pm
Murdoch Children's researchers have contributed to a landmark study, published in prestigious journal Nature Medicine, that has identified key genes associated with the development of 10 autoimmune diseases of childhood.

The research was led by Hakon Hakonarson and Yun Li at the Center for Applied Genomics, at the Children’s Hospital of Philadelphia. Using genetic information from almost 17,000 people, the investigators showed that many of these key genes, and the biological pathways in which they act, are actually disease triggers common to multiple childhood autoimmune diseases. This opens up the possibility of ‘drug repurposing’, whereby treatments already used to tackle one disease might be similarly used in other diseases.

The research encompassed 10 distinct autoimmune diseases beginning in childhood: juvenile idiopathic arthritis (JIA), type 1 diabetes, coeliac disease, common variable immunodeficiency disease (CVID), lupus, Crohn's disease, ulcerative colitis, psoriasis, autoimmune thyroiditis and ankylosing spondylitis.

Murdoch Children's researchers and study co-authors Dr Justine Ellis and Dr Jane Munro, contributed particularly to the study of JIA, through contribution of DNA samples from the Institute’s CLARITY JIA biobank. Interestingly, it was found that at a genetic level, JIA most resembles CVID, a condition which compromises the ability to fight infections. The link between these two diseases had not previously been made.

“This new information provides potential new insights into JIA. What is known about the causes and treatments for CVID might now be able to be applied to JIA, and vice-versa”, Dr Ellis said. This could mean that new treatments may reach patients sooner.

Autoimmune diseases collectively affect up to 10 percent of the population in the Western Hemisphere, with the incidence of immune disorders increasing rapidly over the past few decades. JIA alone affects around 6000 Australian children.

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