Extra Neuro-SysMed Seminar – Fabio Moda and Arianna Ciullini

Title:  Hunting down misfolded proteins: seed amplification assays in neurodegenerative diseases

Speakers: Fabio Moda and Arianna Ciullini

Chair: Charalampos Tzoulis

Place: NB: Other place than usual! The auditorium Olavssalen in Gamle Hovedbygg (campus Haukeland University Hospital, Bergen)

Time: Monday March 17, 2025, at 09:00–10:10

Registration: please use this link

Langage: English

Abstract: Neurodegenerative diseases, including prion diseases, Alzheimer’s disease and other dementias, Parkinson’s disease, and motor neuron diseases, are characterized by the pathological accumulation of misfolded proteins in the brain, which serve as disease-specific biomarkers (DSBs). However, their clinical diagnosis remains challenging, particularly in the early stages, due to the lack of reliable peripheral biomarkers. Identifying disease-specific and peripheral biomarkers is crucial for enabling early detection, improving prognosis, and monitoring disease progression. A major breakthrough in this field is the development of Seed Amplification Assays (SAAs), highly sensitive techniques such as Protein Misfolding Cyclic Amplification (PMCA) and Real-Time Quaking-Induced Conversion (RT-QuIC). These methods allow for the detection of misfolded proteins in peripheral tissues, providing a powerful tool for early and differential diagnosis. This seminar will explore the key applications of SAAs in neurodegenerative disease research and highlight their transformative potential in clinical diagnostics. Fabio Moda will introduce the fundamental principles of SAAs and their applications in diagnosing neurodegenerative diseases. Arianna Ciullini will present some of the latest findings from the Specialized Biochemistry Laboratory of Neurological Proteinopathies, directed by Fabio Moda at Carlo Besta Institute in Milan.

Fabio Moda is an assistant professor of clinical biochemistry and clinical molecular biology at the University of Milan, Department of Medical Biotechnology and Translational Medicine. He performs clinical and research activities at the Laboratory of Clinical Pathology at Fondazione IRCCS Istituto Neurologico Carlo Besta. He is responsible for the BSL3 facility dedicated to the diagnosis of human and animal prion diseases. He also leads the Laboratory of Specialized Biochemistry of Neurological Proteinopathies which is aimed at developing innovative tests, mainly involving the seed amplification assays, for the identification of peripheral biomarkers in biological samples of patients with different neurodegenerative disorders, including Parkinson’s disease, multiple system atrophy, dementia with Lewy bodies, amyotrophic lateral sclerosis, Alzheimer’s and prion diseases. Since 2020, he is a scientific committee member of the Italian Association of Neurology focused on Dementia (SINdem) and has received several national and international grants supporting his research activities.

Arianna Ciullini is a health researcher at the Laboratory of Clinical Pathology at Fondazione IRCCS Istituto Neurologico Carlo Besta under the supervision of Dr. Fabio Moda. Trained as a molecular biotechnologist, her research focuses on the discovery of new peripheral disease-specific biomarkers for α-synucleinopathies. She is involved in several projects aimed at detecting misfolded α-synuclein in olfactory mucosa, skin, urine and blood samples from patients with alpha-synucleinopathies at different disease stages (overt disease, prodromal stages – iRBD) using the Seed Amplification Assay (SAA).