Christos Proukakis is a professor of neurology and neurogenetics at the University College London Queen Square Institute of Neurology, and he practices clinically at the Royal Free London. His research and clinical practice focus on Parkinson’s disease (PD) and related synucleinopathies. He is investigating the role of somatic mutations in the brain, and his lab demonstrated somatic copy number gains (CNVs) in the alpha-synuclein gene, with relation to single-cell and regional pathology in multiple system atrophy. He also produced the first genome-wide somatic CNV identification in synucleinopathy brains using single-cell whole genome sequencing and is currently analyzing over 4000 single cells from PD and healthy brains. His focus will now be on detecting patterns of somatic single-nucleotide variants in PD through deep sequencing of different cell types. He also contributed to Sniffles2, a software tool that facilitates identification of structural variants, which is currently being tested on single-cell genomes.
Associated Grants
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Studying the Pathogenesis of Parkinson’s Disease Via Single-cell Analysis of Human Brain and Gut Cells: A Basis for Clinical Translation
2024
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(SUPPLEMENT) Using Single-cell Analyses to Understand Inherited and Acquired Genetic Variation in Parkinson’s Disease
2023
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Understanding Inherited and Acquired Genetic Variation in Parkinson’s Disease through Single-cell Multi-omics Analyses
2020
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