With the completion of the Human Genome Project. Scientists promised the world a sort of “user’s manual” for the human body and commentators predicted the end of disease.
While those results have not yet arrived, it’s researchers like the Oklahoma Medical Research Foundation’s Patrick Gaffney, M.D., who are trying to get the world there.
If DNA is the “Big Book of You,” with billions of pages dedicated to recipes for height, weight and hair color, what happens when some of the pages tell the body to attack itself? And who will read the ingredients and instructions?
That’s what Gaffney spends his days studying.
Lupus is a chronic autoimmune disease in which the body’s immune system confuses healthy cells with foreign substances, like viruses and bacteria, and attacks the body’s tissues and organs. The illness affects an estimated 2 million Americans, roughly 90 percent of which are women.
It’s a complex disease, driven by a combination of genetic and environmental factors. For the most part, Gaffney focuses on the genetic basis of lupus.
“There’s no ‘lupus gene,’” he said. “It takes several genetic alterations working together to prime the immune system for lupus and then an environmental catalyst to set it off.”
In his lab, Gaffney works to characterize and understand the functions of the genetic alterations. His imaginative and innovative work gained him a role in the International Consortium on the Genetics of Systemic Lupus Erythematosus (SLEGEN), which has published a number of papers in recent years drastically increasing the number of known lupus-related genes for further study.
Just as there’s no one lupus gene, no gene truly works alone, he said. The human body is in a delicate balance and when the DNA in cells makes too much or too little of a certain kind of protein, it can have massive repercussions throughout the system.
“It’s no longer enough to point at a genetic alteration and say, ‘That one’s different. It must be the cause.’ What we strive to do is understand how that change affects other genetic functions and how that leads to lupus,” he said.
In order to do that, Gaffney uses cutting-edge technology to survey the genomes of patients, identify the regions of DNA that contain lupus-related alterations and study them to understand how they work.
That mastery of new techniques has led Gaffney’s lab to new collaborations outside of autoimmune disease. Using a process called “exome sequencing,” his research has opened new doors into understanding rare genetic diseases, including Adams-Oliver Syndrome.
In the end, Gaffney said the goal of the research is to impact patients.
“These are early days in understanding the genetic roots of lupus,” he said. “The technology has advanced incredibly in the last ten years and that’s giving us deeper insight into the causes of the disease.”
Eventually, that insight should translate out of the lab and into the clinic, where doctors will use genetic information to decide the best course of treatment for patients.
“The dream is that someday, these discoveries could help physicians predict and even avert the onset of lupus,” he said. “That’s still a long ways off, but I’m confident we’re on the right path.”
Dr. Gaffney will be sharing findings from his work at the Lupus Foundation of Minnesota’s upcoming conference, Lupus advancements in: management treatment and research which will be held on December 15 in the Twin Cities.
Scheduled speakers and topics also include: Rosaline Ramsey-Goldman, MD, DrPH who will provide an opening keynote on the subject of “Cardiovascular Disease in Systemic Lupus” and lunch keynote by Doruk Erkan, MD, MPH who will be speaking on “Advancements in Antiphospholipid Syndrome Research and Management.”
Learn more and register for this important conference today on the LFM website.