DIAGNOSIS OF NEURODEGENERATIVE DISORDERS - Innovative Molecular Techniques for an Early and Definitive Disease Detection

RT‐QuIC and PMCA are fast in vitro assay that can detect disease-specific biomarkers with high sensitivity and specificity thus enabling early and definitive diagnosis of Neurodegenerative Diseases. These two techniques enable the detection of minute infectious prion proteins (undetectable by current diagnostic techniques) in peripheral tissues (e.g. urine, blood, cerebrospinal fluid and olfactory mucosa) of patients in early stages of Neurodegenerative Diseases and can model the process of protein misfolding and aggregation in vitro.

MAIN ADVANTAGES: The two approaches are fast and can achieve an early and definitive diagnosis of dementia without the need of costly and invasive procedures. It is possible to obtain patients stratifications’ useful for diagnostic and therapeutic purposes and assess the efficacy of different and innovative therapeutic compounds or drugs to interfere with the individual misfolding process. Moreover the techniques will allow the specific monitor of disease progression by analyzing the variation of disease-specific biomarkers, providing the patients with the most efficient compounds able to interfere with the molecular events and not only with the symptoms of the diseases.

SCIENTIFIC DIRECTOR: Giuseppe Legname earned his Doctor of Philosophy 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. Currently he is the Coordinator of the Joint PhD Program in Molecular Biology (JuMBO) at SISSA and the Director of SISSA Laboratory of Prion Biology.