Jefferson Researchers Awarded $3.7 Million NIH Grant to Probe Genetic Causes of Osteoarthritis

An interdisciplinary team of Jefferson researchers led by Sergio A. Jimenez, MD, The Dorrance H. Hamilton Professor of Medicine, Director of the Division of Rheumatology and Professor of Biochemistry and Molecular Pharmacology, has been awarded a 4-year, $3.7 million grant from the National Institutes of Health (NIH) to investigate possible genetic causes of osteoarthritis.

Osteoarthritis, or degenerative joint disease, is the most common of all rheumatic diseases, affecting an estimated 16 million Americans by wearing away protective cartilage in joints. About one-third of adults in the United States have X-ray evidence of osteoarthritis in the knees, hips and spine. By age 65, as much as 75 percent of the American population shows X-ray evidence of osteoarthritis in at least one of those sites, Dr. Jimenez points out.

"We are extremely delighted that this grant was funded," says Dr. Jimenez, who was profiled in the May 1997 issue of Philadelphia magazine's "World Class Doctors."

"As a large-scale program project, it includes a number of individual projects. Because of its nature, the program is interdisclipinary and encompasses several departments within the University." Dr. Jimenez is director of the overall project, with its individual components directed by: Robert G. Knowlton, PhD, Associate Professor of Dermatology and Cutaneous Biology and Associate Professor of Biochemistry and Molecular Pharmacology; Rita M. Dharmavaram, PhD, Research Assistant Professor of Medicine; Rocky S. Tuan, PhD, Professor of Orthopaedic Surgery, Director of the Division of Orthopaedic Research and Professor of Biochemistry and Molecular Pharmacology; and Darwin J. Prockop, MD, PhD, formerly Director of Jefferson's Institute of Molecular Medicine.

"In addition to its direct effect on patients' health, osteoarthritis is one of the main causes of disability and job absenteeism," Dr. Jimenez says. "In costing our national economy tens of billions of dollars in worker disability and lost productivity, osteoarthritis is a very serious socio-economic problem as well as a medical problem."

With the cause of osteoarthritis unknown, the Jefferson research will examine gene defects as a possible cause, mainly because the disease is sometimes present in several generations of the same family. The present study will build on the Jefferson team's preliminary success in demonstrating for the first time that certain gene mutations can cause osteoarthritis in families, Dr. Jimenez explains.

"The new grant will allow us to continue these investigations of gene defects as a cause of osteoarthritis in families. We'll apply the most contemporary methods of genetics research and molecular biology to finding the cause of a very common disease."

"If a genetic cause is clearly established, it then may be possible to counsel families, especially younger people, to prevent full development of the disease or its problems by diet, exercise and other measures," he says.

"Eventually we may be able to use gene therapy to correct the genetic defects," he hopes.

The NIH funding is from a consortium, including the National Institute of Arthritis and National Institute of Aging, Dr. Jimenez adds.