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.
Ratners’ 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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