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UCL Queen Square Institute of Neurology

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Dr Christos Proukakis

Dr Christos Proukakis

Senior Clinical Lecturer

Clinical and Movement Neurosciences

UCL Queen Square Institute of Neurology

Joined UCL
1st Nov 2009

Research summary

My current research is focused on the genetics of Parkinson's disease, in particular the hypothesis of somatic mutations having a role. We are currently investigating this with a range of techniques designed to detect mosaicism for different types of mutations. We recently published the first evidence of somatic mutations in Parkinson's disease and multiples system atrophy substantia nigra in Brain.

http://www.alzforum.org/news/research-news/could-genetic-mosaicism-adult-neurons-precipitate-disease

 We have recently published a novel method for sequencing the important GBA gene using Nanopore long reads. I previously identified and studied a novel SNCA (alpha-synuclein) mutation (H50Q). 

 I have been awarded grants as principal investigator by the Royal Free Peter Samuel Fund, Parkinson's UK, and the Michael J Fox foundation for the work above.

Teaching summary

I lecture on the pathogenesis of Parkinson's disease on the MSc Clinical Neuroscience / Clinical Neurology course. I am also on the programme committee for the latter, and on the Translational Neuroscience MRes.

I also lecture on CAG repeat disorders and neurogenetics for BSc student modules.

I teach movement disorders to clinical medical students during their neurology rotation.

Laboratory teaching and supervision currently of two PhD students (one primary), one Post-doctoral research associate, one research assistant. 

Education

General Medical Council
CCST, Neurology | 2009
University of London
PhD, Molecular Biology and Genetics | 2009
Royal College of Physicians
MRCP, Medicine | 1997
University of Oxford
BM BChir, Medicine | 1994
University of Cambridge
BA, Natural Sciences | 1991

Biography

After general medical training and MRCP, I completed a PhD at the Clinical Neurosciences department on the genetics and cell biology of the SPAST gene / spastin protein, the commonest gene mutated in hereditary spastic paraplegia (HSP). In parallel, I collaborated in work that led to the discovery of novel genes for HSP and related disorders.
My neurology specialist training was completed in and around London (Queen Square, King's, St Thomas', Hurstwood Park), with experience including neurogenetics, movement disorders, dementia, intensive care, motor neuron disease.
I have been a Senior Lecturer in Clinical Neuroscience (now Associate Professor) and Consultant Neurologist at the Royal Free London NHS Trust since November 2009. In addition to general neurology, I see outpatients with Parkinson's disease and genetic disorders including HSP.

Publications