Nation's only prion center studies rare and extraordinary conditions

Pierluigi Gambetti, MD, examining a human
					brain as part of his prion research

The hallmark of prion disease is the deterioration of the brain tissue, which develops a spongy texture. Pierluigi Gambetti, MD, has studied prion diseases as head of the National Prion Disease Pathology Surveillance Center since its founding in 1997.

At the Case Western Reserve University School of Medicine National Prion Disease Pathology Surveillance Center, scientists embark on an intense search. They are on a mission to study the causes and changes of infectious neurodegenerative diseases caused by prions, which affect humans and animals alike. The center is the only one of its kind in the country and is supported by the Centers for Disease Control and Prevention (CDC). Working in close collaboration with the CDC and the American Association of Neuropathologists, the center examines tissue from 75 percent of all cases of suspected prion diseases in the United States.

Since the center's inception in 1997, Pierluigi Gambetti, MD, professor of pathology and director of the center, and his colleagues have examined more than 2,500 suspected incidents of sporadic, genetic and acquired prion diseases in humans. The team focuses much of its attention on one such condition—Creutzfeldt-Jakob disease, the human form of mad cow disease.

"These investigations are crucial for a number of reasons, including the fact that the disease has jumped from cattle to humans in other countries. So, we know it is possible," Dr. Gambetti says, adding that prion diseases are always fatal.

Dr. Gambetti is one of the world's foremost experts in prion diseases. He is noted for his discovery of a genetic prion disease known as fatal familial insomnia and its sporadic form, sporadic fatal insomnia, in collaboration with Elio Lugaresi, MD, of the University of Bologna, Italy. About 40 families worldwide are known to suffer from this debilitating condition that leads to the loss of the ability to sleep.

"In recent years we have gained a lot of information about prion diseases, and we understand them much better," he says. "It is now time to concentrate on early diagnosis and treatment."