New Results Underscore Importance of Non-Coding Super-Enhancers (SEs)—Especially Powerful Switches–in Autoimmune Diseases; SEs Mark Disease-Associated Regulatory Nodules in T-Cells

Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell that is key to regulating the human immune system. The findings, published online in Nature on February 16, 2015, open the door to new research and development in drugs and personalized medicine to help those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. The Nature paper was titled, “Super-Enhancers Delineate Disease-Associated Regulatory Nodes in T Cells.” The senior author of the Nature paper, John J. O'Shea, M.D., is the Scientific Director at NIH's National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The lead author, Golnaz Vahedi, Ph.D., is a post-doctoral fellow in Dr. O'Shea's lab in the Molecular Immunology and Inflammation Branch of the NIAMS. The study was performed in collaboration with investigators led by NIH Director Francis S. Collins, M.D., Ph.D., in the Medical Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI). Autoimmune diseases occur when the immune system mistakenly attacks its own cells, causing inflammation. Different tissues are affected in different diseases. For example, the joints become swollen and inflamed in rheumatoid arthritis, and the brain and spinal cord are damaged in multiple sclerosis. The causes of these diseases are not well understood, but scientists believe that they have a genetic component because they often run in families. "We now know more about the genetics of autoimmune diseases," said NIAMS Director Stephen I. Katz, M.D., Ph.D. "Knowledge of the genetic risk factors helps us assess a person's susceptibility to disease. With further research on the associated biological mechanisms, it could eventually enable physicians to tailor treatments to each individual."
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