"This discovery has the potential to be a treatment for lupus as it relates to kidney problems," said Dr. Doyt Conn, the national Arthritis Foundation's senior vice president for medical affairs. "Hopefully in the near future a medication may be available."
Researchers identified the gene by first mapping its location in mice with Chediak-Higashi syndrome, sifting through piece after piece of DNA to determine which gene was mutated. They then isolated it in people with the disease.
The two-year effort was funded by the National Institutes of Health, the Arthritis Foundation and the American Cancer Society.
The study was conducted in conjunction with researchers at the University of Texas Southwestern in Dallas, Vanderbilt University and Glaxo-Wellcome, a pharmaceutical company.
"The next step is to characterize the gene to find out how it does
what it does," Kingsmore said. "So far we have a piece of the puzzle. We now
need to figure out precisely how it causes the disease, how it protects
against kidney disease in lupus, and how it makes people susceptible to cancer."