MUSC has received more than $1 million to support scleroderma research. The gift was part of the estate of Reeva E. Donoghue of Denver, Colo. who died in 1997.

Donoghue’s daughter, the late Deborah Donoghue, suffered from scleroderma and was treated at MUSC in 1983 and 1985. Before coming to MUSC, she had been treated in Colorado, but her conditioned deteriorated. She came to MUSC after having heard of the reputation of MUSC’s Rheumatology Division, then headed by E. Carwile LeRoy, M.D. LeRoy currently chairs the Department of Microbiology and Immunology at MUSC, a basic science department comprised of 18 faculty (M.D.s, Ph.D.s and M.D.-Ph.D.s), 44 graduate students, 18 staff and eight fellows engaged in the study of microbes, the immune response and autoimmunity (scleroderma is one of the autoimmune diseases). The Division of Rheumatology and Immunology, presently led by Richard M. Silver, M.D., consists of six full-time M.D.s, six Ph.D.s, and numerous trainees from the United States and abroad, all of whom are devoted to basic and clinical research related to scleroderma and other connective tissue diseases.

Scleroderma is a disease of the skin, joints and sometimes internal organs. It affects about 300,000 people in the United States, with three times as many women as men afflicted. It usually begins after middle age and can become increasingly chronic and progressive. Scleroderma means hardening (fibrosis) of the skin, and is caused by malfunction of the vascular and immune systems which results in overproduction of collagen, the connective tissue in the body. Scleroderma can be localized to the skin or can be systemic with the excess collagen scar tissue winding up in various organs such as the esophagus, kidneys, lungs, intestines, heart and skin. The vascular system of the skin and internal organs is adversely affected by collagen deposition.

“When she first came to MUSC, Deborah Donoghue had well-established, severe chronic scleroderma,” said LeRoy. “We were able to make her more comfortable and improve function, but unfortunately, she died at home soon after her second hospitalization.” Her mother, apparently grateful for the treatment she received at MUSC, stipulated in her will that $10,000 be given to MUSC for scleroderma research. She also stipulated that the residual of her estate should go to one or more research centers to be used solely for scleroderma research, with Denver attorney William Collister, the personal representative of her estate, making the decision concerning the beneficiary.

Collister said that he chose the Medical University because of its strong track record in scleroderma research. He said that Reeva Donoghue wanted the funds to be used to help find a cure for scleroderma, and he felt that this could best be accomplished by supporting promising research. He felt the funds would be well spent at MUSC.

The Medical University has during the past 22 years established itself as one of the leading scleroderma research centers in the world. Among the breakthroughs in the field coming out of MUSC research laboratories were:

• A laboratory test that became the worldwide standard to identify early vascular disease in people with Raynaud’s phenomenon and provide early detection of scleroderma.
• The use of lung X-ray with a CT scanner coupled with the rinsing of the lung airways to detect scleroderma lung disease during early phases when it may be responsive to treatment.
• The emphasis on the vascular aspect of scleroderma, in contrast to the traditional approach to viewing it as a skin disease, initiated by LeRoy. This led to a treatment for renal crisis in scleroderma, which prior to 1980 caused more than half of scleroderma-related deaths.
• The basic cellular mechanisms of excessive collagen production have been dissected at the molecular level and linked to specific immune cytokin-receptor systems which are promising as future sites for gene or biological therapeutic intervention.

In addition to research, MUSC is well known for its clinical treatment of scleroderma, drawing patients from across the United States. LeRoy and Silver have been recognized by American Health magazine as two of America’s top doctors in the field of scleroderma treatment.

Also, the university’s strong graduate education program focusing on clinical care and research in scleroderma has provided experts in the field who have gone on to other institutions to bring MUSC’s expertise to a greater number of individuals.

“While great strides in early detection and the treatment of major complications of scleroderma have been accomplished, it remains a potentially lethal disease that requires further investigation,” said Silver, professor and director of the Rheumatology and Immunology Division of the Department of Medicine. “With resources such as those provided by the generosity of the Donoghue Family Fund we can undertake cutting edge research that may lead to a cure for this disease.”