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The Making of Medicine

A Better Understanding of Multiple Sclerosis

New findings frrom our Mariano Garcia-Blanco, MD, PhD, have shed important light on how our immune systems are calibrated to prevent multiple sclerosis, a potentially disabling autoimmune disorder. That understanding moves us closer to new treatments by revealing several key areas where things can go awry.

Among the findings was the identification of a gene that acts as a master controller for many other genes that are critical to our susceptibility to MS and vital to the proper functioning of our immune systems. The gene, DDX39B, helps keeps the body’s immune response working at the appropriate levels, so that the immune system doesn’t begin to attack the body’s own cells – as is the case in MS and other autoimmune diseases.

This master gene, the researchers found, directs the activity of another gene critical to the production of immune cells called T regulatory cells already linked to MS. Further, this subordinate gene, FOXP3, is known to play a critical role in autoimmune disorders.

These new insights into how the immune system functions, or should function, help doctors and scientists understand the underlying causes of multiple sclerosis and give them attractive targets in their efforts to develop new treatments. 

Almost a million Americans and almost 3 million people worldwide are thought to suffer from MS, and Dr. Garcia-Blanco's new findings could have a big impact on the field of MS research.

“While there are effective treatments for multiple sclerosis and other autoimmune diseases, most of these lead to general suppression of the immune system and make patients susceptible to infections or incapable of responding well to vaccines,” he said.

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