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Scleroderma Registry Could Boost Research

Sponsors hope to pinpoint possible genetic link

SUNDAY, Aug. 26, 2001 (HealthDayNews) -- A new national family registry and DNA repository is being created to help identify genes that may be connected to the incurable autoimmune disease scleroderma.

Having DNA samples readily available to researchers should "speed up research by years," says Marilyn Perry, who will coordinate the registry for the U.S. National Institute of Arthritis and Musculoskeletal and Skin Diseases, part of the National Institutes of Health.

"Every time you do a study, you have to recruit all your samples," Perry says. "Now, they'll have a bank of samples they can go to."

Scleroderma -- which means "hard skin" -- involves abnormal growth of connective tissue. Ranging from mild to life threatening, it can affect only the skin, making it hard and tight, or it also can damage blood vessels and internal organs, including the heart, lungs, kidneys and digestive system.

An estimated 300,000 Americans have scleroderma, says the Scleroderma Foundation. Women are four times more likely than men to have the disease.

Although the exact cause is unknown, researchers believe several factors interact to cause scleroderma. These include abnormal immune activity, potential environmental triggers and genetics. Although researchers don't believe scleroderma is passed on from parents to children, they do believe certain genes may make a person more likely to develop the disease.

The registry will study families that have at least one case of scleroderma in order to:

  • Determine how often the disease affects more than one person in a family
  • Look at how often other autoimmune diseases, like lupus, occur in families that have scleroderma
  • Collect and store DNA and blood serum from scleroderma patients and, for comparison, from unrelated friends and in-laws
  • Attempt to identify genes that may make people susceptible to scleroderma
  • Offer the DNA repository as a resource to scientists studying scleroderma and other autoimmune diseases.

The registry has not yet received final approval to collect DNA from volunteers, but that's expected to start in early September.

"We're very anxious to get started," Perry says. "I have a feeling that once we do get started, we're going to be very, very busy."

Perry says she already has been contacted by about 400 people who want to be included in the registry -- even though scleroderma patients offering to be part of the registry understand it won't help them.

"They're realistic that whatever comes out of this won't come out of it in time for them," she says. "But they don't want their children and…their grandchildren to suffer this disease."

The registry also provides a way for relatives of scleroderma patients to make a contribution.

"The families that approach us that want to be involved have sat back helplessly watching their loved ones be devastated by this disease," Perry says. "They are being part of this because they want to do something to help."

Adds Peter Giusti, executive director of the Scleroderma Foundation: "We are pleased to see more research with the goal of helping to discover the origins of this disease."

What To Do

To learn more about the registry, contact Perry at the Scleroderma Family and DNA Repository, Wayne State University School of Medicine, Hutzel Hospital, 4707 St. Antoine, Detroit, MI 48201. Or, she can be reached at 1-800-736-6864 and, via e-mail, at

For more information on scleroderma, visit the Mayo Clinic or the Arthritis Foundation online.

SOURCES: Interviews with Marilyn Perry, B.S., coordinator, Scleroderma Family and DNA Repository, Wayne State University School of Medicine, Detroit; and Peter Giusti, executive director, Scleroderma Foundation, Byfield, Mass.
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