Nationwide DNA Registry Boosts Scleroderma Research
Gene Samples Now Being Collected

Researchers at The University of Texas Medical School at Houston are now collecting DNA samples from patients nationwide in an attempt to identify genes that influence their susceptibility to scleroderma, a complex, chronic autoimmune disease.

Dr. Maureen D. Mayes, director and principal investigator of the UT-Houston-based National Scleroderma Family Registry and DNA Repository, said as many as 20 genes could be contributing to the onset of scleroderma, but little else is known about how and why one in 4,000 people suffer from the disease.

"We know a lot more about scleroderma than we did 20 years ago, but we still don’t know the answers to fundamental questions about what causes it and what cures it," said Dr. Mayes, professor of medicine at UT-Houston’s division of rheumatology and clinical immunogenetics.

"With this registry, we want to determine what genes are involved and how they work to trigger the disease," she said. "If we can determine the pathway, and then block it, we may be able to prevent or change the course of the disease."

Dr. Mayes said it became clear only recently that genetics play a role in scleroderma, which causes the skin to thicken and become hard and tight. It often is most noticeable on the face and hands, but the disease also can affect the gastrointestinal tract, lungs and other organs, and can be fatal.

Slightly more than 1 percent of scleroderma patients have a parent or sibling who suffers from the disease. That may sound like an insignificant number, Dr. Mayes said, but given the rarity of the disease, it illustrates that there is a genetic component to the onset of scleroderma.

For the registry, which is supported by the National Institutes of Health, researchers are collecting blood samples from 500 scleroderma patients who have no other known case of the disease in their family. The patients’ parents, siblings and children also are giving blood samples.

One hundred patients with relatives who also suffer from scleroderma are being asked to submit blood samples to the registry. Spouses and other people who are not blood relatives of patients and who have no autoimmune disease also can participate. Researchers are sending blood collection kits to participants who live outside Houston, and patients and their families can go to their own doctors to have blood drawn.

Registry participants must sign consent forms and agree for their patient records to be released to Dr. Mayes and her co-investigators, who include Dr. Frank Arnett, chairman of the department of internal medicine at UT-Houston; Dr. John Reveille, UT-Houston’s George S. Bruce Jr. professor in arthritis and other rheumatic diseases; and Dr. Li Jin, a researcher at the University of Cincinnati. Patients then are assigned a unique barcode number so that information about their genetic makeup remains confidential.

Once the DNA repository has been built up, scleroderma geneticists all over the country will be able to apply for samples to be used in their own research.

Dr. Arnett said scleroderma is such a rare disease that finding enough patients to participate in meaningful research has been difficult in the past. By collecting genetic information from patients nationwide, storing it in one place, and sharing it with other scientists, he hopes the registry will solve this problem and stimulate more research.

"The more researchers we have working on this, the better the chances of us finding a cause, a cure and better treatments for scleroderma," Dr. Arnett said.

Fran Waranius, president of the Scleroderma Foundation’s Bluebonnet Chapter, said it is extremely important for patients and their families to participate in the registry because it could eventually unlock the mystery to what causes the disease.

"The fact that this research is happening brings hope to our patients," Waranius said.

To join the registry, call registry coordinator Marilyn Perry at (713) 500-7196 or 1-800-736-6864.

NOTE – The Scleroderma Foundation’s Bluebonnet chapter will hold a 5K run/walk to raise funds for patient support, public education and scleroderma research at 7:30 a.m. April 28 at Bear Creek Park, on Clay Road between Highway 6 and Eldridge Parkway. For information, call the race hotline at (713) 770-0228.

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©2006 Texas Medical Center

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