"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. To learn more about the registry, contact:
Marilyn Perry
Registry Coordinator
Scleroderma Family & DNA Repository
Wayne State University School of Medicine
Hutzel Hospital
4707 St. Antoine
Detroit, MI 48201
Phone: (313) 966-7777
Toll-free: (800) 736-6864
Fax: (313) 966-7776
E-mail: mperry@wayne.edu
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).
To interview Dr. Mayes, contact Jennifer Day, Public Affairs, Wayne State University School of Medicine, at (313) 577-1058, JDay@med.wayne.edu.