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Dr. Sarah Vascellari

Grant Title: Development of a blood and urine prion diagnostic test for human prion diseases using the Real Time QuIC assays

Location: Department of Biomedical Sciences, University of Cagliari (UniCa), Cagliari, Italy

Grant Year: 2023

Our goal is to validate the real-time quaking-induced conversion (RT-QuIC) assay for the sensitive detection of prions in blood and urine from sporadic and genetic CJD patients. This test would be useful for early diagnosis of human prion diseases, screening of the blood supply or urine-derived products for prion contamination and monitoring of the effect of new therapeutic treatments. The principal and co-principal investigators on this project will study how the RT-QuIC performs in detecting prions in different blood components (e.g. plasma, white and red blood cells) from the same patient, to identify the components that should be used to further perfect the test. Once that is established, the RT-QuIC assay’s reproducibly will be evaluated by having 5 different international laboratories (Rocky Mountain Laboratories, NIH; Istituto Superiore di Sanita`, Italy; Sorbonne University, France; University of Cagliari, Italy; and University of Verona, Italy) test the same blood and urine samples without knowing if they are from a CJD patient or not, and see if they report correct and similar results.

About the Researcher:

Dr. Sarah Vascellari
Department of Biomedical Sciences, University of Cagliari (UniCa), Italy

Sarah Vascellari is currently researcher at the Department of Biomedical Sciences, University of Cagliari in Italy and she has been working in the prion field for the past 15 years. She earned her Master Degree “summa cum laude” in Biological Sciences in 2006 and her PhD in “Experimental Development of Antiviral Drugs” in 2011 from the University of Cagliari in Italy, working with Prof. Alessandra Pani. In her thesis work, she investigated the role of cholesterol in the pathogenesis of prion disorders.

After completing her PhD, she worked as a postdoctoral Visiting Fellow at the Laboratory of Persistent Viral Diseases, TSE/Prion Biochemistry Section, Rocky Mountain Laboratories, National Institute of Health (USA) with Dr Byron Caughey for 21 months in 2011-2012. During that time, she led the development of an ultrasensitive and specific assay for mouse prions called real-time quaking-induced conversion (RT-QuIC). She has been then able to use this extraordinarily sensitive new test to detect prions in the blood of scrapie-infected mice. She also showed for the first time that RT-QuIC assays can not only detect the classical protease-resistant forms of prion protein, but also much more protease-sensitive infectious forms that can predominate in some types of prion disease.

After this time, she returned to the University of Cagliari in Italy where she has successfully participated in several international collaborative projects. She has been co-principal investigator on a grant awarded from the Fondation Alliance Biosecure in 2012 and from the CJD Foundation in 2013 for the purpose of further developing and optimizing applications of RT-QuIC to prion detection and prion disease diagnosis. She further pursued the prion detection in urine, and her preliminary findings have been presented at the Prion conference.

During that time at University of Cagliari, she achieved the Specialization in Microbiology and Virology in 2018. In her thesis work, she focused on the use of RT-QuIC assay for the detection of prion protein in cerebrospinal fluid from Sardinian patients with suspected sporadic Creutzfeldt-Jakob disease. She has been also member of the Organizing Committee of International Summer School on “Prion and prion-like neurodegenerative disorders” in Italy from 2016 to 2017.

After this time, she had a researcher position at University of Cagliari in Italy in 2018 focusing her research activity on the role of microbiome and microbial metabolites in the pathogenesis of prion-like disorders as Parkinson’s disease. For this purpose, she also worked as a visiting researcher at the APC Microbiome Institute, University College of Cork in Ireland with Prof. John Cryan in 2019. She has also teaching experience as lecturer in Microbiology at the University of Cagliari.

She obtained the National Scientific Qualification for the position of associate professor in Italian Universities in 2022. She has 31 publications in international peer-reviews journals, 1 Monography, 1 Book chapter, 1 Conference Proceedings, 31 Abstract/posters and oral presentations in well-established national and international conferences.

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