Researchers are Now Able to Zoom in on the Mutations Causing Autoimmune Diseases

Without understanding the cause of disease it is difficult to understand how to most effectively care for patients. Instead of addressing the underlying cause of disease, physicians are forced to simply treat the symptoms.

Thanks to a new study led by researchers from the Garvan Institute at the University of New South Wales we may have new insight into the causes of autoimmune diseases. The results from this study have been published in Cell. First author on the study is Mandeep Singh.

About the Study

This team uncovered a way to essentially “zoom in” on the cells which cause autoimmune disease.

They first uncovered which cells were responsible for causing disease by evaluating real patient cells. Utilizing patient samples, they were able to see which cells were bypassing the mechanisms which safeguard the cells from attacking the body’s healthy tissues. These rogue cells are extremely rare, only occurring in one out of every 400. This rarity makes their study difficult.

Even after these cells are identified, thorough investigation is difficult if researchers can’t look at them in a clear resolution.

After the rogue cells were isolated from the others, they could be analyzed to identify which mutations in the cells may be causing disease. These researchers were able to zoom in on the rogue cells in cryoglobulinemic vasculitis patients first.

What it Means

Identifying these mutations is in and of itself an accomplishment. Of course, if you don’t know which cells are rogue there’s no way to know how to remove them from the body. However, these researchers were also able to understand at which stage of disease each mutation occurred. This could lead to diagnosis at earlier stages, more targeted treatments, and better tracking of how patients are responding to therapies at each stage.

This research could be the start of something big. These findings could not only aid in the development of more specific treatments, it could also support the timely and proper diagnosis for patients.

Various follow-up studies are being planned to examine the mutations of these cells in other conditions including celiac disease, lupus, as well as type 1 diabetes.

You can read more about this study here.

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