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Arthritis and Immunology Research Program

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OMRF receives $26 million for two federal research grants

OMRF researcher finds genetic links for rare and deadly disease

Amr H. Sawalha, M.D. Assistant Member, Arthritis and Immunology Research Program Assistant Professor of Medicine, Department of Medicine, University of Oklahoma   Health Science Center Staff Physician, U.S. Department of Veterans Affairs Medical Center, Oklahoma City Adjunct Assistant Professor, Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City

Inside each cell in the human body is DNA, which contains all the information that makes us individuals. Our hair color, our allergies, all of it comes from our DNA. But not every cell needs every bit of genetic information. Heart cells don’t need to know how to make lung proteins and lung cells don’t need to know how to make skin proteins.

In my lab, we study “epigenetics” – or what factors regulate the way genetic information carried in our DNA is translated and why that process sometimes goes wrong. In other words, epigenetics is the study of the mechanisms that turn genes on or turn them off.

Our main disease focus is on lupus, a chronic autoimmune disease in which the immune system doesn’t just attack foreign invaders, but the body itself. One possible cause of the disease is an epigenetic defect. T cells normally remain in the “off” position and cause no harm to the body. But when infection or bacteria are present, T cells spring into action to fight the invaders in the full-blown “on” position.

In lupus patients, their T cells, once turned on, fail to turn themselves off. If the T cells are left turned on longer than necessary, the immune system can attack the body’s own tissues leading to lupus or other autoimmune diseases. If we can learn what causes the immune system to go overboard, we might discover a treatment to return the system to normal.

Another disease we study is Behçet’s disease, which causes oral and genital ulcers and can lead to blindness, blood clots, arterial aneurysms and brain inflammation. Working with a team of international collaborators, we’ve been able to pinpoint some of the genes associated with the disease. When we find out the functions of the genes, we might be able to design therapies to halt the progression of the disease or provide better treatments to patients who suffer from it.