NIH News Release
NATIONAL INSTITUTES OF HEALTH
National Institute of Arthritis and
Musculoskeletal and Skin Diseases

FOR IMMEDIATE RELEASE
Wednesday, December 4, 2002

Contacts:
Judith Wortman
Office of Communications
and Public Liaison
(301) 496-8190

NIAMS Funds Multiple Grants in Heritable Disorders of Connective Tissue

Eight new research grants funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) will shed light on heritable diseases of connective tissue. The new grant awards support individual research projects as well as collaborative exploratory and developmental grants that investigate the cause of one or more of these disorders and novel treatment pathways. NIAMS is a component of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services.

Heritable disorders of connective tissue are rare diseases that result from mutations in genes responsible for building tissues. Disorders of connective tissue — the material between cells that gives tissues form and strength — include such conditions as osteogenesis imperfecta and Ehlers-Danlos syndrome, and, in total, may affect as many as a million people in the United States.

"We are pleased with the quality of research that has been proposed in response to the Request for Applications," says NIAMS Director Stephen I. Katz, M.D., Ph.D. "We need to understand more about these disorders and how they can be effectively treated, and I believe these eight research projects are an important step in that direction."

The Request for Applications (RFA) was issued in response to recommendations made at the Third Workshop on Heritable Disorders of Connective Tissue that was held at NIH in November 2000 and sponsored by NIAMS, the NIH Office of Rare Diseases, and several nonprofit organizations outside NIH. In addition to the NIAMS grants, several grants have been awarded by the National Heart, Lung and Blood Institute, another component of NIH and a co-sponsor of the RFA.

Heritable connective tissue disorders in humans are associated with many mutations that affect connective tissue proteins, including over 300 mutations affecting collagen, a protein substance found in skin, bone, cartilage, and all other connective tissues. Researchers supported by these grants will study the functions of connective tissue proteins and how mutations result in disease. Following is a brief description of each grant.

For more information on heritable disorders of connective tissue, contact:

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
1 AMS Circle
Bethesda, MD 20892-3675
Phone: 301-495-4484 or
877-22-NIAMS (226-4267) (free of charge)
TTY: 301-718-6366
Fax: 301-718-6366
E-mail: NIAMSInfo@mail.nih.gov
Internet: http://www.niams.nih.gov

Coalition for Heritable Disorders of Connective Tissue
4301 Connecticut Avenue, N.W., Suite 404
Washington, DC 20008
Phone: (202) 362-9599
E-mail: chdct@pxe.org
Internet: http://www.chdct.org

The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a component of the U.S. Department of Health and Human Services' National Institutes of Health, 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.