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University of Cincinnati Academic Health Center
Publish Date: 03/20/98
Media Contact: AHC Public Relations, (513) 558-4553
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Medical Center Researchers Study Neurofibromatosis

Cincinnati--Nancy Ratner, PhD, professor in the Department of Cell Biology, Neurobiology, and Anatomy, at the University of Cincinnati (UC) College of Medicine, has received a $700,000 grant for a three-year study of neurofibromatosis (NF). Neurofibromatosis 1 (NFl) is one of the world's most common genetic diseases, affecting one in 3,000 children and adults in the world. Sometimes called "elephant man's disease" because of the disfigurement that can result, it is caused by a mutation of the NFl gene.

Not all NF disease victims suffer serious disfigurement, but many experience learning disabilities related to spatial orientation. Sometimes NFl sufferers have malignant tumors as a rare consequence of the disease. "Half of those with NFl inherit the disease, and the other half are victims of spontaneous genetic mutation," says Ratner. People with the NFl gene have a 50 percent chance of passing it on to their children. In Cincinnati, Children's Hospital Medical Center oversees a Neurofibromatosis Clinic for Children. The University Hospital in Cincinnati oversees one of the world's first neurofibromatosis clinics for adult patients.

NFl symptoms vary greatly among individuals. One of the first visible signs of the disease is multiple dark spots on the skin. Tumors that develop as a result of nerve enlargement may be the most obvious sign of neurofibromatosis. In more serious cases, the NFl disease is sometimes linked to many forms of human cancer, including leukemia and neural tissue tumors.

Ratnersí team of researchers, including UC research assistant professor Tilat Rizvi, PhD, is studying the sequence of events that may trigger NF genes into causing the dark spots and tumors to appear. Their findings should provide clues leading to the development of treatments to stop the disease. The UC grant is part of a $16 million research initiative for neurofibromatosis, that also provided NF research funds to Duke University, University of North Carolina at Chapel Hill, the University of British Columbia, Harvard, Massachusetts General Hospital, MIT, the University of Florida, University of California in San Diego, and the University of Washington.

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