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A STORY OF TALENT: SANT’ANNA SCHOOL MEDICAL STUDENT CO-AUTHORED PAPER ON FUTURE TREATMENTS FOR PARKINSON’S DISEASE PUBLISHED IN “BRAIN” JOURNAL

Publication date: 08.03.2018
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Throughout the Amgen Scholar program at the University of Cambridge, Giulio Deangeli, outstanding medical student of Sant'Anna School, had the opportunity to work alongside researchers from across Europe. A recent research paper co-authored by Giulio Deangeli has been published in journal Brain, which has provided researchers and clinicians with contributions in neurology. Its impact factor of 10,292 has been one of the highest for neurology journals. 

The University of Cambridge and University College London collaborated on this research work aimed at investigating the link between mutations in enzyme glucocerebrosidase 1 (GBA1) and Parkinson’s disease. Gaucher disease, the most common lysosomal storage disorder that affects the mononuclear phagocyte system by lipid accumulation, is associated with Parkinson’s disease. To test the hypothesis that a Gba1 deficiency may enhance neuronal vulnerability to alpha-synuclein-induced pathology, L444P/+ mice and their wild-type control littermates received a single intraparenchymal injection of human alpha-synuclein-AAV.

Study results indicate that truncated human alpha-synuclein is deleterious to the development and/or survival of nigral dopaminergic neurons. Findings have also indicated the significant role of interaction between α-syn and enzyme glucocerebrosidase in the pathogenesis of GBA-associated Parkinsonism. This research provides some new insights that may be helpful for the treatment of neurological disorders.

Giulio Deangeli shared the research findings at the “Amgen Scholars 2016” symposium and at the 13th​ International Conference on Alzheimer's and Parkinson's Diseases and Related Neurological Disorders, AD/PD™ 2017, which took place in Vienna, from 29 March - 2 April 2017

Cover photo: Giulio Deangeli