Goal is to Identify Susceptibility Genes

A national Scleroderma Family Registry and DNA Repository has been established by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH). Its overall objective is to identify genes that influence susceptibility to scleroderma, a complex, chronic, autoimmune disease. The registry is led by Dr. Maureen D. Mayes, professor of internal medicine, Wayne State University School of Medicine, Detroit, Mich.

Scleroderma refers to a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. Scleroderma can affect only the skin (making it hard and tight); it can also damage the blood vessels and internal organs, such as the heart, lungs, and kidneys. Estimates for the number of people in the United States with the systemic (body-wide) form of scleroderma range from 40,000 to 165,000. The number of people with all scleroderma-related disorders is between 250,000 and 992,500.

"We are committed to supporting research on scleroderma, which can greatly impair a person's quality of life," says Stephen I. Katz, M.D., Ph.D., director, NIAMS. "This important registry and DNA repository will help us find out what genes play a role in the disease and will also be an important resource for researchers in scleroderma and related autoimmune diseases."

Researchers believe that several factors interact to produce scleroderma, including abnormal immune activity, potential environmental triggers and genetic makeup. Scleroderma is not passed on from parents to child, but certain genes may make a person more likely to develop the disease.

The registry will study both families with only one case of scleroderma and those with more than one case (known as multiplex families). Specifically, the registry will:

--Determine the frequency with which scleroderma occurs in more than one family member and how often other autoimmune diseases (such as lupus) occur in families with at least one case of scleroderma.

--Conduct a nationwide search to identify and enroll multiplex families.

--Collect and store genetic material (DNA) and blood serum from scleroderma patients and from friends and in-laws as unrelated controls.

--Collaborate with scientists at the University of Texas, Houston, to identify susceptibility genes for scleroderma.

--Advertise the availability of the DNA repository as a resource to scientists studying genes associated with scleroderma and other autoimmune diseases.

The Scleroderma Family Registry and DNA Repository is funded under NIH contract # N01-AR-0-2251.

The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. For more information about NIAMS, call (301) 495- 4484 or (877) 22-NIAMS (free call).