Lupus breakthrough offers hope in the future for those with disease
A massive lupus study led by Oklahoma Medical Research Foundation researchers has developed its first major breakthrough, throwing the veil off a gene that affects the complex autoimmune disease that causes the body to attack itself.
Oklahoma Medical Research Foundation researchers are leading the team of more than 50 scientists from 33 institutions across the globe to begin unraveling the mystery.
They have made their first major discovery by pinpointing a gene where changes, or mutations, can increase the risk of someone having lupus, heart disease and some cancers.
“We’re absolutely certain this is important in lupus,” said Kathy Moser, who led the research, along with fellow research foundation scientist Dr. Patrick Gaffney.
Ultimately, this marks a major step toward genetic testing to eventually determine whether someone has a chance of developing lupus and tailoring the best treatment for that person.
“It opens up a new line of investigation for us. Now that we know this particular genetic variance is part of the cause of lupus, we can now focus our studies on the specific functions that are altered by this genetic variance in patients,” Moser said.
It’s been a long, slow process to find clues to the disease that affects about 1.5 million Americans, including about 25,000 Oklahomans. The massive international research project began two decades ago with the gathering of blood samples of lupus patients. These were collected by international collaborators.
“With more than 15,000 donated samples, this is the largest genetic experiment ever done in the field of lupus research,” Gaffney said. “We worked with scientists from Spain, Colombia, Canada, England, Sweden, Puerto Rico and all across the U.S. to make this happen.”
Scientists already had discovered more than three dozen genes linked to lupus out of the millions of genetic combinations contained in humans.
“We don’t know how many genes cause lupus, but there could be dozens more to discover,” Moser said.
The president and chief executive of the Lupus Foundation of America, Sandra Raymond, said this discovery is significant.
Health effects from the autoimmune disease include heart attacks, strokes, seizures, kidney failure and miscarriages. Raymond said work such as that led by the research foundation will help scientists who next need to determine which lupus genes affect the kidneys, heart or other organs.
Moser said the work is uplifting and challenging because so little is known about the complex disease that appears to be influenced by genetics, hormones and the environment.
The study results appear in the most recent edition of the American Journal of Human Genetics.
To see a video on this study, please click here.