Within five years, researchers at The University of Texas Health Science Center at Houston expect to have identified the genetic clues to scleroderma, a chronic, often progressive, autoimmune disease.
The National Institutes of Health awarded a rheumatologist at the health science center's University of Texas Medical School at Houston a $6 million, five-year grant to conduct a genome-wide association study. The study's goal is to identify gene regions that influence a patient's susceptibility to a serious form of scleroderma known as systemic sclerosis.
Scleroderma, a condition that causes the immune system to attack its own body, affects an estimated 300,000 patients nationwide, mostly women ages 25-55. The disease can result in thickening and tightening of the skin and, in systemic cases, causes serious damage to internal organs, oftentimes targeting the lungs.
"I've been studying scleroderma for 20 years, and to see the research field mature to the point where we can do this genotyping, and at the end of five years have an answer is very exciting," said principal investigator Maureen D. Mayes, M.D., MPH, professor of internal medicine in the Division of Rheumatology and Clinical Immunogenetics. "Right now we don't know what causes scleroderma, and there is no cure. With this genetic information, we can change that. We can develop better treatments and improve or eliminate symptoms."
For the first phase of the research, which is supported in part by the UT Health Science Center at Houston's Center for Clinical and Translational Sciences, Mayes and collaborators will study the genes of 1,500 patients with scleroderma, plus 3,000 in a control group. Most patients from scleroderma centers at the UT Medical School at Houston, Johns Hopkins School of Medicine and Fred Hutchinson Cancer Research Center have already been identified, and Mayes estimates that the genotyping can be completed as soon as the end of this year. Olga Gorlova, Ph.D., a co-investigator at The University of Texas M. D. Anderson Cancer Center, will then conduct an in-depth statistical analysis of the genome-wide association scan.
During the second phase of the study, to validate the results from the first patient group, Mayes will lead efforts to collect and analyze another 1,500 genetic samples from patients at 10 scleroderma centers in the United States and Canada. Genetic data from a control group of 3,000 healthy individuals will be used for comparison.
"This is the tip of the iceberg. With this study, we'll be able to identify gene regions, and from those regions, we will be able to identify specific genes," Mayes said. "This provides us a map to the pathways that cause scleroderma, and if we know the pathways, we could interrupt them and prevent disease."
In addition, the study could help investigators identify genes that are markers of severe disease, as well as genes that are indicators of mild disease that is not likely to progress. This, Mayes said, would help physicians determine the best course of treatment. For those with genes that indicate mild disease, rheumatologists could treat their symptoms, which often include joint pain and heartburn. Physicians could pursue a more aggressive approach to treatment, including chemotherapy, for patients with genes that are identified to increase likelihood of severe disease.
"The goal is to improve their quality of life, and one of the most important ways we can do that is to first identify and learn more about the genes that influence scleroderma," Mayes said.
Patients who would like to participate in the study may register by calling 1-800-736-6864. Local participants who qualify will have their blood drawn once at the Clinical Research Unit at Memorial Hermann – Texas Medical Center.