The National Institutes of Health has awarded the Oklahoma Medical Research Foundation and Harvard University $4.1 million to investigate the role of genetics in the development of the autoimmune disease lupus.
OMRF physician-scientist Patrick Gaffney, M.D., and Harvard researcher Jason Buenrostro, Ph.D., received a five-year grant to study how the DNA of people with lupus differs from those without the condition. They will also investigate the distinctions in the genetic makeup of African Americans and European Americans with lupus.
Lupus occurs when the immune system becomes unbalanced and can affect the skin, kidneys, lungs, joints and cardiovascular system. The disease primarily strikes women and disproportionately affects African Americans, American Indians and Latinos.
Risk for the condition is believed to come from changes in our DNA, or genome, said Gaffney, but researchers don’t understand the cellular mechanics of why or how.
“In recent years, we’ve made great progress in uncovering the genetic changes that predispose certain people to lupus,” said Gaffney, who holds the J.G. Puterbaugh Chair in Medical Research at OMRF and leads the foundation’s Genes and Human Disease Research Program. “Now we need to go further into the weeds to understand what these changes do to DNA’s function.”
Gaffney’s lab will investigate the role of “epigenetic” factors, the chemical changes in our genome that affect how our DNA is packaged and expressed but do not affect the underlying genetic sequence. They’ll also perform a cross-racial analysis to determine how these factors vary in African Americans and European Americans.
“There are substantial genetic and clinical differences between lupus in people of European and African descent,” said Gaffney. “Understanding how epigenetics factors into that may have important implications for more personalized patient care.”
At Harvard, Buenrostro’s lab invented and optimized technologies to better understand how cells change in the presence of a disease such as lupus. Using these tools, the researchers can create more accurate, comprehensive maps of cells of people with lupus. Ultimately, Gaffney hopes they will identify unique epigenetic markers to target in future studies, leading to better treatment and earlier diagnosis for patients.
“Dr. Gaffney’s deep expertise in both the clinical and biological facets of lupus has driven this project to new heights,” said Buenrostro. “This grant will get us closer to understanding lupus and its origins.”
The grant, R01 AI156724-01A1, is funded by the National Institute of Allergy and Infectious Diseases, a part of the NIH.