Experts to explore genetics, therapies for connective tissue diseases at Jefferson
Stem cells, gene therapy offer hope for disorders such as skin-blistering diseases, arthritis
Connective tissue diseases are common, including rheumatoid arthritis, osteoarthritis, and even degenerative skin changes that come with aging. Diabetic foot ulcers that refuse to heal have become a major health issue in this country. A number of inherited connective tissue disorders can cause a great deal of damage and can be life-threatening.
"Today we know the basic genetics behind many connective tissue diseases, and are beginning to understand precisely in many cases what the genetic mutations are and how they cause disease," says Jouni Uitto, M.D., Ph.D., professor and chair of the Department of Dermatology and Cutaneous Biology at Jefferson Medical College of Thomas Jefferson University in Philadelphia, who studies the devastating and potentially life-threatening skin-blistering disease, epidermolysis bullosa (EB).
To discuss the latest advances in both basic science and potential therapies for a number of connective tissue disorders, Jefferson is hosting the 12th International Symposium on Basement Membranes Wednesday, June 15, 2005 to Saturday, June 18, 2005. The meeting will be held at Jefferson Alumni Hall, 1020 Locust Street in Philadelphia.
"Much of the current research on connective tissue diseases is predicated on the development of animal models that can recapitulate the clinical disease," Dr. Uitto says. "That's really where the state of the art is now in research – creating and studying such preclinical disease models."
EB, he notes, is not especially common, but "has been very instructional in understanding the function of normal basement membranes." Basement membranes provide foundations for a variety of tissues, including forming a strong sheath around blood vessels.
In EB, an individual's skin literally peels off as a result of minor injury, leaving individuals vulnerable to infection. In the last decade, scientists have been uncovering the molecular origins of such diseases, he says, noting that researchers have pinpointed at least 10 genes harboring mutations involved in EB. Such information has also helped explain how normal tissue functions. "The rare mutations we've found have provided insights into how skin works," he notes.
In addition, many researchers have begun exploring the potential use of both gene therapy and stem cell-based therapies in treating such disorders.
On Saturday, June 18, a special Matrix Biology Symposium will be held to honor renowned molecular biologist Darwin Prockop. M.D., Ph.D., professor of biochemistry and director of the Center for Gene Therapy at Tulane University Health Sciences Center. The meeting is a biennial event that was last held in 2003 in Japan. The meeting is supported by the Lennox K. Black International Prize for Excellence in Medicine at Thomas Jefferson University.
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