This book explores the intricate landscape of prion diseases, exploring the various methodologies for detecting human and animal prions, emphasizing both current techniques and those under development, as well as emerging techniques and methodologies for biomarker detection in prion diseases, paving the way for improved diagnostic and therapeutic approaches.

The rational development of theranostic small molecules for prion diseases is also included, shedding light on potential treatment. It examines the utility of prion disease diagnostic markers in pre-symptomatic disease stages, offering insights into early detection strategies.

Pharmacological approaches in prion diseases are explored, along with the potential of Lab-on-Chip platforms for monitoring prion and "prion-like" amyloid assembly and behavior. The role of reactive microglia and astrocytes as therapeutic targets is investigated, highlighting novel avenues for intervention.

Furthermore, the book addresses biological fluid biomarkers in human prion diseases, paying special attention to biosafety considerations. Human genetic evidence is analyzed to identify new targets in prion diseases, discussing both opportunities and challenges.

The utilization of RT-QuIC analysis of peripheral tissues and PMCA applications in prion disease diagnosis is examined, along with the extension of seed amplification assays for the clinical diagnosis of neurodegenerative disorders beyond prion pathologies. Overall, the book provides a comprehensive overview of biomarkers and therapeutic targets in prion diseases, encapsulating both current knowledge and emerging trends in the field.

Chapter 10 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Autorentext

Giuseppe Legname earned his Doctor of Philosophy degree at the University of Warwick, UK. After a long spell in industry in the field of immunotherapy, he moved to the National Institute for Medical Research (NIMR), Medical Research Council in London, UK as a Research Associate. In 1999 he became Assistant Adjunct Professor, and later Associate Adjunct Professor, at the Institute for Neurodegenerative Diseases (IND), University of California at San Francisco, USA, under the direction of 1997 Nobel Laureate Professor Stanley B. Prusiner.

In 2006 he joined the faculty of the Scuola Internazionale Superiore di Studi Avanzati (SISSA) in Trieste, Italy, at the Department of Neuroscience. Currently he is Professor of Biochemistry in the same Department and Coordinator of the PhD Program in Molecular Biology.

The main focuses of his research program are the physiological function of the prion protein in mammals and the mechanisms of prion replication as well as the structural characterization of molecular determinants for prion infectivity.

Fabio Moda earned his Doctor of Philosophy degree in Translational and Molecular Medicine at the University of Milano-Bicocca, Italy. In 2022 he completed his specialization in Clinical Pathology and Clinical Biochemistry at the University of Pavia, Italy. Since 2006, he has been working at the Fondazione IRCCS Istituto Neurologico Carlo Besta in Milan. He is currently an Assistant Professor of Clinical Biochemistry and Clinical Molecular Biology in the Department of Medical Biotechnology and Translational Medicine at the University of Milan and also carries out research and clinical activities as a Biologist Manager at the Carlo Besta Neurological Institute. At the Besta Institute, he is in charge of the biosafety level 3 laboratory (BSL3), where he performs diagnostic tests on cerebrospinal fluids and biochemical analysis of brain tissues collected from patients with prion diseases and other dementias. His research primarily focuses on identifying novel disease biomarkers present in peripheral tissues, including the olfactory mucosa, urine, saliva, tears, and blood of patients with neurodegenerative disorders.