Scottish Rite for Children recently joined scientists at Weill Cornell Medicine and The Jackson Laboratory for Genomic Medicine in a study on abnormal immune activity in lupus. The project was the largest lupus study of its kind to date. Lupus is a chronic disease that can cause rashes, fatigue, joint pain and kidney failure. Systemic lupus erythematosus (SLE) is a severe form of the disease that affects approximately 1.5 million people in the United States and about 5 million worldwide. It is more common in girls or young women and people of color more often than whites. SLE causes the immune system to mistakenly attack healthy tissues and cells.

Advanced genomics techniques were used to profile gene activity in more than 360,000 individual white blood cells sampled from children and adults with lupus and matched healthy controls. The children in the study were seen in the Rheumatology clinic at Scottish Rite for Children, where interim director of Rheumatology Tracey B. Wright, M.D., coordinated the collection of samples that were processed into various components, including mononuclear cells and plasma. Single-cell RNA sequencing was used to map gene activity in individual cells sampled from 33 children with SLE and 11 healthy children, as well as eight adults with SLE and six healthy adults.

Researchers found that signatures of gene activity associated with lupus occurred mostly in small subsets of immune cells in patients and that patients who have more cells with these signatures have worse cases of the disease. These findings underscore the importance of these cell clusters as potential targets for lupus treatments, and also suggests that profiling single cells, like this study did, could someday be used as a better way of classifying patients’ disease severity and predict response to therapy. Researchers are closer to understanding the molecular causes of lupus, which may enable more effective targeting with future treatments. “The discovery of these lupus-signature cells makes us optimistic about the new direction we can take in treating this complex disorder” says Lynnette Walters, research coordinator at Scottish Rite for Children.

Learn more about the study identifying abnormal immune cell activity in lupus.