The National Prion Disease Pathology Surveillance Center (NPDPSC) at Case Western Reserve University will receive up to $20 million in funding as part of a grant renewal from the Centers for Disease Control and Prevention (CDC) to better understand how and why prion diseases—degenerative brain conditions found in both humans and animals—develop and spread.
The five-year grant period began this month and will allow the center to continue research and diagnostic activities related to prion diseases.
Prion diseases are different than other transmissible diseases caused by viruses or bacteria. They develop when normal prion proteins in the brain change shape and clump together causing damage to the nerve cells. The damage results in small spongelike holes in brain tissue.
There is no known cure for these disorders, which accelerate death rapidly.
First of its kind in the U.S.
The NPDPSC is the only center of its kind in the U.S. and coordinates autopsies and neuropathologic examinations of suspected prion disease cases from across the country, said Brian Appleby, NPDPSC director and principal investigator of the center. Local autopsies are performed on-site and other cases are performed elsewhere through a network of providers that NPDPSC coordinates. The surveillance center was originally established in 1997 at the Division of Neuropathology of Case Western Reserve University by Pierluigi Gambetti.
“NPDPSC collects tissue samples and clinical information from cases of prion disease to monitor its incidence and investigate possible cases in which these diseases have been acquired from other humans or animals, such as chronic wasting disease transmitting from deer to humans. The additional grant money will allow us to continue surveillance and monitor for the emergence of new zoonotic prion diseases,” Appleby said.
“The center also operates the nation’s clinical reference lab for prion disease and performs cerebrospinal fluid testing. The CDC funding is crucial for setting up brain tissue testing and use of the relatively new diagnostic test called RT-QuIC (real time quaking induced conversion), which has revolutionized the way the disease is diagnosed clinically. We are pleased to receive this grant renewal to continue this important research.”
Prion diseases unlike other brain conditions
Human prion diseases include Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, and fatal familial insomnia, among others. Animal prion diseases consist of bovine spongiform encephalopathy, commonly known as “mad cow disease,” chronic wasting disease found in deer, and scrapie found in sheep and goats.
Symptoms of prion diseases in people include memory loss, difficulty speaking and walking, and behavior changes––manifestations that closely resemble Alzheimer’s disease and other dementias, making the condition difficult to diagnose.
Prion diseases in humans can be acquired through contaminated food or contact with infected medical equipment, inherited through mutations in the PRNP gene that codes prion proteins, or sporadically when prion proteins fold abnormally for no known reason.
The most common form of prion disease in people, Creutzfeldt-Jakob disease, accounted for more than 500 deaths in 2020, according to the CDC.