Leading the way to a cure


Target Biomarkers from Genetic Linkage

Harley, John, MD, PhD

Oklahoma Medical Research Foundation

A great deal of scientific evidence indicates that our genes are important in determining who does and does not develop lupus. By studying almost 500 families in which two or more relatives have lupus, Dr. Harley and his coworkers have obtained strong evidence for several specific regions of DNA in the human genome, each of which contains a gene that can contribute a small amount to the disease. Scientists think that different gene combinations may work together to cause lupus in different individuals. In a few of the regions found so far to contribute to lupus, researchers have identified the specific genes that are responsible. The remaining genetic effects are confined to pieces of DNA known to contain a gene conferring risk for lupus, but researchers do not yet know the specific culprits from among the thousands of possibly responsible genes. Dr. Harley’s research team will apply new technologies and advances in human genomics to identify as many of these genes as is possible, and failing this goal, get as close to them as they can. As the search for these genes proceeds, Dr. Harley will collaborate with other lupus researchers to investigate whether specific DNA sequences he finds that are strongly associated with these genes can be used as “genetic biomarkers” in tests to aid in the diagnosis, prognosis, and treatment of lupus.

What this study means for people with lupus: Finding the genes that contribute to lupus and then figuring out how they work to create the disease will provide opportunities for new strategies of diagnosis, therapy, and prevention. As part of the search for these genes, Dr. Harley will identify biomarkers that could enable improved diagnosis and monitoring of lupus and help guide decisions on the treatment of individual patients.

1.5 million

people in the U.S. have Lupus.

172 million

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