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Vincenzo Bonifati

Bonifati

Vincenzo Bonifati, MD, PhD
Professor – Genetics of Movement Disorders
email: v.bonifati@erasmusmc.nl 
tel:  +31 (0)10 7043 382
fax: +31 (0)10 7044 736

Shipping address:

Department of Clinical Genetics
Erasmus MC, Room EE-930-b
Wytemaweg 80
3015 CN Rotterdam
The Netherlands


News June 8th 2018 neurons

An international team led by Prof. Vincenzo Bonifati from the Erasmus MC Rotterdam, Department of Clinical Genetics, has discovered for the first time variants in a gene (termed LRP10) in patients with familial forms of Parkinson’s disease, Parkinson’s disease and dementia, and Dementia with Lewy bodies.The paper reporting this discovery is published in The Lancet Neurology. This discovery opens a novel window on the molecular mechanisms of these common neurodegenerative diseases, and might pave the way to the identification of novel biomarkers and novel disease-modifying therapies.

Press release

To the article: The Lancet Neurology

 
Biosketch

Vincenzo Bonifati received his MD (cum laude) in 1988 from ‘La Sapienza’ University of Roma, Italy.
In 1992 he completed his residency in neurology at the same University and was appointed staff neurologist. He later moved to the Erasmus University Rotterdam, where he received his PhD in human molecular genetics in 2003. In 2006 he was appointed Associate Professor, and in 2012 he became Professor of Genetics of Movement Disorders in the Erasmus University Rotterdam, Dept. of Clinical Genetics.

He has a long-standing research interest in the genetics of the neurodegenerative diseases and movement disorders, with a focus on Parkinson’s disease (PD).

His work led to the identification of DJ-1 as the gene causing PARK7, one of the Mendelian forms of PD (Bonifati et al., Science 2003). His group was one of the first to describe the Gly2019Ser mutation, and to characterize the Gly2385Arg variant in the LRRK2 gene, currently considered among the most relevant genetic determinants of PD. In 2009, his group characterized FBXO7 as the gene causing a novel form of autosomal recessive juvenile parkinsonism with pyramidal signs, that they termed PARK15.

In 2012, his group identified mutations in the SLC30A10 gene causing a novel form of autosomal recessive parkinsonism and dystonia with hypermanganesemia, polycythemia and chronic liver disease, delineating the first human inherited disorder of manganese transport.

In 2013, his group identified mutations in the SYNJ1 gene, encoding the synaptojanin-1 protein, in a novel form of autosomal recessive, juvenile parkinsonism, now termed PARK20. These findings provide further evidence for an abnormal synaptic vesicle recycling as a central theme in the pathogenesis of parkinsonism.

On April 11, 2014, he gave his Inaugural Lecture (Oratie), entitled “Unravelling the Parkinson’s code”, as a Professor at the Erasmus University Rotterdam, Erasmus MC Faculty.

Oratie Vincenzo Bonifati_540 pixels breed

Key words: Parkinson's disease, Movement Disorders, Dystonia, Neurodegeneration, Genetics, Mechanisms