While juvenile idiopathic arthritis remains to be the most common rheumatic disease in children, researchers have long been stumped at its caused. The best prediction was that it originated as a result of both environmental triggers and some genetic susceptibility. However, a new study in identical twins has finally revealed the root cause of at least their own diagnosis- a single genetic mutation. The discovery of this mutated gene will hopefully help researchers in the quest to uncover other genes which can single-handedly cause this disease.
The Study
This study was led by Adrian Liston. He and his team began by studying the blood cells of each twin through a process called single-cell sequencing. They then modeled the genetic defect in mice in effort to analyze how the disease functions. From there they confirmed the single genetic mutation which caused the condition.
The mice studies were an essential component to this finding. As technology has advanced and we have discovered how to reproduce human genetic mutations within mice, we now have the ability to better research patients as individuals.
Looking Forward
Hopefully, we will see these findings translate not only into discoveries of additional genes which cause juvenile arthritis, but new therapeutic options for patients who are suffering from it. Through using mouse models, researchers believe we can develop treatments which can benefit individuals as opposed to averages of disease states.
Ultimately though, we know that we need to completely understand what causes each disease in order to even begin to develop effective therapies.
As for the twins, their arthritis is currently under control, and thanks to the research, their doctors believe they can now treat any future symptoms much more effectively.
You can read more about this study with the twins and how mouse models can help us develop more effective treatments for individuals here.
