The Open Targets Initiative Brings Scientists Closer to Identifying the Cause of Autoimmune Diseases


Scientists believe that “it is in our DNA.” According to a recent article in EurekAlert, a five-year study formulated through Open Targets together with the Sanger Institute and their collaborators is the first to extensively analyze cytokine (small protein) signals and immune cells.

Researchers compared genetic differences associated with immune diseases. Prior studies found thousands of genetic changes (variants) that are more commonly found in people who have immune diseases than found in healthy individuals.

They discovered links between disease variants and early activation of T cells. This is an indication that difficulty in regulating early activation of T cells may be the cause of at least some immune diseases.

About the Immune System

The immune system is composed of cells, organs, and tissues that protect us from disease and infections. It is the product of our genetics.

Our DNA is actually 99% similar to that of another person. Our behavior, appearance and other characteristics make up the other 1%.

Changes in our DNA may indicate the readiness of our immune system to fight diseases.

The root cause of inflammatory myopathies (muscle disease) is not known. However, the majority of these diseases come under the heading of autoimmune diseases.

About Autoimmune Disease

The body’s immune system normally defends against disease and infections. In the case of autoimmune diseases, the response system goes on the attack against the body’s own blood vessels, muscle fibers, organs, joints or connective tissue.

Researchers have been aware since the 1950’s that the immune system can attack, rather than defend, various areas of the body. In such cases, it is the immune system that causes inflammation. This, in turn, leads to various immune disorders such as asthma, inflammatory bowel disease, and multiple sclerosis.

Millions of people around the world are affected by these diseases. There are over five million asthma patients in the United Kingdom.

Several theories have been presented in an attempt to explain the cause of autoimmune diseases. Experimental data was presented in support of these theories but each presentation fell short of a satisfactory explanation of the full clinical picture.

When cytokines are added to the equation, solving the mystery becomes even more complicated. Cytokines are the signaling proteins that are released in order to allow communication between the immune cells during inflammation.

As a result, the factors that cause autoimmune disease remain unknown.

About the Study

The team analyzed the genome (complete set of DNA) activity in three types of immune cells in healthy volunteers. These were cross-checked against all genetic variants found in various immune disorders.

Different cytokines were added. This created fifty-five cell states that replicated immune disease inflammation. This enabled the researchers to understand what effects signaling chemicals had in these cells.

The researchers were surprised to learn that cytokines had minimal effects on DNA activity. They were even less involved in the majority of diseases they studied.

As science increases its knowledge of the immune system, opportunities will arise for the development of medical treatments that will be tailored according to a specific understanding of the genetics of our immune systems.

The Sanger paper was published on September 23, 2019, in Nature Genetics.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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