The National Institutes of Health has awarded OMRF a $4.4 million grant to study a rare immune disease in African-American patients.
The five-year grant will fund research on sarcoidosis, which begins in the immune system and causes lumps of immune cells called granulomas to form in organs. When multiple granulomas grow in the heart, lungs or other organs, they can cause malfunctions and, in some cases, death.
“We are going to delve into the genetics of sarcoidosis in African-American families, which are many more times more likely to have the disease than Caucasians,” said OMRF scientist and lead researcher on the grant, Courtney Montgomery, Ph.D. Official numbers vary, but experts estimate African-Americans are at least three times more likely to get the disease.
Not only is sarcoidosis more prevalent in African-Americans, it’s also more deadly, she said. African-Americans with the disease are 10 times more likely to die from it than their European-American counterparts.
Most patients experience lung symptoms, including chest pain, dry cough and shortness of breath. Other symptoms include fatigue, fever, joint pain, skin rashes and raised, red skin sores, most often on the front of the lower leg.
“Not much is known about the causes of sarcoidosis. Why do granulomas appear? How do we treat the disease and not just the symptoms? Sometimes sarcoidosis goes into remission by itself and we don’t know why,” Montgomery said.
As part of the five-year study, Montgomery and her collaborators—researchers Ben Rybicki, Ph.D., of Henry Ford Health Systems, and Mike Iannuzzi, M.D., of the State University of New York—will sequence the DNA of 1,400 samples from sarcoidosis patients and their families and do a targeted genetic analysis of another 1,000 samples. Once any related genes are identified, the scientists will look at the proteins they create for a possible therapeutic agent to fight sarcoidosis.
“Much like when researchers discovered insulin could control type 2 diabetes, we’re hoping to find a protein we can either supplement or alter in order to treat sarcoidosis,” Montgomery said.
By better understanding the genetic side of the disease, Montgomery said researchers hope to identify the environmental triggers that jump-start sarcoidosis in patients.
Funding for the study is provided by the National Institutes of Health’s National Heart, Lung and Blood Institute. OMRF’s Patrick Gaffney, M.D., will contribute genetic sequencing support.