The 2019 Aspen Institute Italia Award for scientific research and collaboration between Italy and the United States (in its fourth edition) was awarded to the authors of the Test for Creutzfeldt–Jakob Disease Using Nasal Brushings.
Their research represents a significant step forward in diagnosing prion diseases; above all, it opens a new and broad perspective of diagnosis in the field of those neurodegenerative diseases that are more common and that have a significant social and economic impact.
Participants at the ceremony include Giulio Tremonti, Chairman of Aspen Institute Italia; Lucio Stanca, Vice Chairman of Aspen Institute Italia; Thomas Smitham, Deputy Chief of Mission of the US Embassy. The researchers Gianluigi Zanusso, Associate Professor of Neurology, Verona University and Byron Caughey, Senior Investigator, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, Montana will illustrate their findings.
The originality of the research lies in having devised a simple and non-invasive procedure for the reliable diagnosis of prion diseases. The neurons of the olfactory mucosa are taken with nasal brushing and then analyzed with a new technique that amplifies prions in vitro, called “real-time quaking-induced conversion (RT-QuIC)”. This test is highly innovative because it combines the high sensitivity of the RT-QuIC technique (used to identify the pathogenetic marker of prion diseases) with the non-invasive collection of olfactory epithelium.
International criteria require that the definitive diagnosis of prion disease be obtained exclusively by a biochemical or histological exam. Indeed, before the research being recognized here was undertaken and proved successful, a certain diagnosis of prion disease could only be obtained after death, with a brain autopsy. A biopsy of a living brain is never recommended because of the high risk of contamination and the high costs of sterilizing healthcare facilities. Having a test capable of making a definite diagnosis of prion disease while a patient is still alive, therefore, is an extremely important step forward in our understanding of these diseases. It informs family members, avoids further tests, reduces costs and allows timely treatment.
In the near future, the diagnostic use of nasal brushing coupled with the RT-QuIC technique could be extended to other neurodegenerative diseases (such as Parkinson’s, Alzheimer’s and Lewy Body Dementia). RT-QuIC performed on samples of olfactory epithelium could identify the marker proteins of these diseases, thereby allowing diagnoses even in very early stages of the disease. In most neurodegenerative diseases – in particular Parkinson’s – the first neuropathological lesions are observed in the olfactory system; indeed, olfactory disorders represent a very early non-motor symptom of the disease.
Eleven scientists belonging to four different scientific organizations worked together toward this result: Christina D. Orrú¹, Matilde Bongianni², Giovanni Tonoli4 , Sergio Ferrari², Andrew G. Hughson¹, Michele Fiorini², Bradley R. Groveman¹, Maurizio Pocchiari³, Salvatore Monaco², Byron Caughey¹, Gianluigi Zanusso².
- ¹ Laboratory of Persistent Viral Diseases, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health – Hamilton (Montana) – USA
- ² Neurosciences Dept, Biomedicine, Verona University
- ³ Cellular Biology and Neurosciences Dept, National Institute of Health (ISS), Rome
- ⁴ Ear-Nose-Throat Clinic, G.B. Rossi Hospital, Verona
-  First published in The New England Journal of Medicine, 2014, n. 371, pp. 519-529.