Extra Neuro-SysMed Seminar 鈥� Christos Proukakis
Welcome to an extra Neuro-SysMed seminar this month! We are visited by Christos Proukakis from the University College London, Institute of Neurology, and he is happy to give a talk to the Neuro-SysMed community on the topic "Somatic mutations in synucleinopathies". Join us in the auditorium Olavssalen i Gamle Hovedbygg at 12.00-13.30 May 7, 2025! Lunch is also included, just remember to register.
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Title: 听Somatic mutations in synucleinopathies
Speaker: , Professor of Neurology and Neurogenetics at the University College London Institute of Neurology, and Honorary Consultant Neurologist at the Royal Free London.听
Chair: Charalampos Tzoulis
Place: NB: Other place than usual!听The auditorium Olavssalen in Gamle Hovedbygg (campus Haukeland University Hospital, Bergen)
Time: Wednesday, May 7, 2025, at 12:00鈥�13:30 (light lunch from 12.00-12.30, followed by the seminar 12.30-13.30)
Registration:
Language: English
Abstract: Parkinson鈥檚 disease (PD) and multiple system atrophy (MSA) are synucleinopathies, that is, neurodegenerative disorders characterised by aggregation of the alpha-synuclein protein. Although PD (usually) and MSA (always) are sporadic, an alternative genetic contribution could arise through somatic mutations, which lead to mosaicism. The Proukakis lab uses a number of techniques to investigate this in post-mortem brain tissue, from fluorescent in situ hybridisation to DNA sequencing, using tissue DNA or amplified single cell genomes, sequenced with short and long reads, whole genome or targeted. They have data suggesting that somatic copy number gains of the alpha-synuclein gene may drive MSA, and they are currently finalising a genome-wide large somatic CNV analysis of 4,000 single cells from PD and control brains.
Christos Proukakis is a Professor of Neurology and Neurogenetics at the University College London Institute of Neurology, and practices clinically as Honorary Consultant Neurologist at the Royal Free London. He completed his medical degree in Cambridge and Oxford and his specialty training and PhD in London. His clinical and research focus is Parkinson鈥檚 disease/synucleinopathies. He hypothesized and is investigating the role of somatic mutations in the brain.
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