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RESEARCH AREA AND TRANSLATIONAL RESEARCH

Parkinson’s disease (PD) is a chronic progressive neurodegenerative disease associated with intra-neuronal accumulation of aggregated alpha-synuclein (α-Syn) protein, but unfortunately current knowledge still does not address the underlying pathogenic mechanisms. Consequently, PD lacks both an effective causal treatment and definitive early diagnostic criteria. In the recent years a large amount of evidence has shown that peripheral tissues like skin autonomic nerves, gastro-intestinal mucosa, salivary glands show immunoreactivity to pathogenic forms of α-Syn. Thus, peripheral tissues, that can be easily biopsied, contain nervous tissue prone to the pathology, and bear potentially important information on disease mechanisms. Our laboratory has a strong translational attitude and aims to set-up novel pathway biomarkers of disease by analyzing skin biopsy and peripheral fluids via advanced new biotechnology. Our group has published several papers on the detection/characterization of α-Syn and its pathogenic species in the skin of PD and other neurodegenerative diseases like atypical parkinsonisms plus we demonstrated that PD patients present a somatosensory small fiber neuropathy that correlates with disease duration and progression. More recently we published several papers on the specific profile of surface proteins of blood- and CSF-derived extracellular vesicles (EVs), which stratifies patients with PD and atypical parkinsonisms. These EV markers are related to circulating inflammatory and immune cells. We are now profiling prodromal and early phases of disease to identify specific signature and we are investigating how peripheral inflammation and immune dysregulation can contribute to brain neuronal cell death in PD. These projects take advantage of a biobank and clinical database for PD and atypical parkinsonisms that the PI Giorgia Melli established at NSI in Lugano since 2015.

RESEARCH METHODS

Our laboratory is a multidisciplinary laboratory dedicated to the study of patients-derived peripheral samples (skin, blood, and CSF) by the means of advanced technology in the field of histology, biochemistry, and high throughput proteomics. We set up a proximity ligation assay, and confocal microscopy protocols for the analysis and quantification of several neuronal and aggregation prone proteins for skin biopsy specimens. We set up a standardized protocol for high resolution mass spectrometry (MS) based proteomics analysis of skin lysates. Moreover, we exploit standardized human peripheral blood mononuclear cell (PBMC) isolation and culture methods and neuronal cell lines culture protocols for the analysis of peripheral inflammation in patients with PD and atypical parkinsonisms at different stages of disease.

GROUP LEADER
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Giorgia Melli MD, PhD

BRIEF CV

PD Dr.med Giorgia Melli is the group leader of the Parkinson Research Laboratory at Neurocenter of Southern Switzerland (NSI-EOC). She obtained the MD degree and the residency in neurology at the University of Parma, Italy in 2000. During her PhD in neuroscience, she completed a 3 year-research fellowship at Johns Hopkins University, Baltimore, USA, where she investigated mechanisms of axonal degeneration and neuro-protective agents in cell cultures and animal models of peripheral neuropathies. She currently focuses on how those mechanisms are relevant in CNS neurodegenerative diseases like Parkinson’s disease in which aggregates of misfolded proteins propagate through peripheral and central nervous system. Since 2013 she serves as neurologist at NSI, Lugano where she established the skin biopsy as diagnostic tool for the Neurology Department and is responsible for translational projects in Parkinson’s disease. She leads a multidisciplinary team devoted to biomarkers discovery in peripheral tissues in PD, bringing together clinicians, experts in movements disorders, bioengineers, and basic scientists. In 2020 she has been awarded with a prestigious grant from the MJF Foundation for the implementation of an international multicentric study on peripheral biomarkers in early PD. Since 2019 she has been appointed as Privatdozent by Università della Svizzera italiana (USI).
RESEARCHERS
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Giacomo Chiaro

CLINICAL NEUROLOGIST

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Sandra Pinton

RESEARCH ASSISTANT

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Manuel Prampolini

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Rudolf Kälin

MASTER STUDENT

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Dipakshi Tare

MASTER STUDENT

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Elena Vacchi

POSTDOC FELLOW

RECENT PUBLICATIONS

 

PUBLICATIONS IN COLLABORATIONS WITH OTHER GROUPS

 

Complete list of publications: https://orcid.org/0000-0003-2069-4620

FUNDINGS
  • Micheal J Fox Foundation Research Grant
  • Jacques and Gloria Gossweiler Foundation Research Grant
  • Swiss Parkinson Research Grant
  • Fidinam Research Grant
PHOTOGALLERY