Scleroderma

Autoimmune and autoinflammatory diseases are on the rise and researchers and physicians at The University of Texas Health Science Center at Houston are at the forefront of efforts to stem the tide. These diseases are often hard to diagnose and often affect individuals differently.

Autoimmune and autoinflammatory diseases occur when a person's immune system attacks his or her own tissues. In autoimmune diseases, there usually are circulating immune markers, which help in diagnosis. These diseases, which include rheumatoid arthritis, type 1 diabetes and Scleroderma, also tend to run in the same families and share many of the same genes. Autoinflammatorydiseases do not show these same markers but are increasingly being linked to infections or specific gene mutations. These diseases include ankylosing spondylitis, Familial Mediterranean Fever and TRAPS.

"We have recently seen a wave of new discoveries of causes and treatments of autoimmune diseases," said John D. Reveille, M.D., the George S. Bruce, Jr. Professor in Arthritis and Other Rheumatic Diseases and the Linda and Ronny Finger Foundation Distinguished Chair in Neuroimmunologic Disorders at The University of Texas Medical School at Houston. "Here at the UT Health Science Center at Houston, we are riding the crest of that wave, which will bring better lives to our patients and their families."

There are more than 80 autoimmune and autoinflammatory diseases. Tens of millions of Americans suffer from these diseases and their numbers are growing, reports the American Autoimmune Related Diseases Association. Women are three times more likely to develop an autoimmune disease than men.

Cutting-edge research at the UT Health Science Center at Houston includes the discovery of 10 to 15 genes that predispose people toward Scleroderma, Lupus and Rheumatoid Arthritis and the unearthing of four genes tied to ankylosing spondylitis.

With the aid of sophisticated equipment that compares the DNA of healthy and ill individuals, UT researchers are now searching for additional genes linked to Scleroderma, which affects about 300,000 people in the United States. Researchers are also exploring the impact of silica and other environmental factors on Scleroderma, a chronic connective tissue disease causing thickening (fibrosis) of the skin, blood vessels, lungs and other organs.

"We were the first to show that Scleroderma had a significant genetic component and was, in fact, an autoimmune disease," said Frank Arnett, Jr., M.D., clinical professor, the Elizabeth Bidgood Chair in Rheumatology and the Linda K. Finger Chair in Autoimmune and Connective TissueDiseases at the UT Medical School at Houston.

The UT Health Science Center, according to Arnett, is the nation's largest Scleroderma research center. The university received a five-year, $7.5 million grant to establisha Center of Research Translation devoted to Scleroderma in 2006 and a five-year, $6 million grant to identify Scleroderma genes through human genome-wide association studies in 2008. Both grants are funded by the National Institutes of Health.

Arnett said research shows that Scleroderma shares many susceptibility genes with lupus, a chronic inflammatory disease, and other autoimmunediseases . This means that one day researchers may be able to more specifically target the causative pathways in each of these conditions.

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