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Prof Christos Proukakis
Professor of Neurology and Neurogenetics
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 (SNCA CNVs_ in Parkinson's disease and multiple system atrophy (MSA) brain, enriched in cells of certain types with inclusions, and the first single cell sequencing data for genome-wide CNVs in MSA.
We recently published a novel method for sequencing the important GBA gene using Nanopore long reads, with updates due soon.
I previously identified and studied a novel SNCA (alpha-synuclein) mutation (H50Q).
I am delighted to have been awarded a grant as co-PI for single cell studies of PD, in a project led by Thierry Voet in KU Leuven, as part of the ASAP Collaborative Research Network. I have also been awarded grants as principal investigator by the Michael J Fox foundation, MSA Trust, Royal Free Peter Samuel Fund, and Parkinson's UK.
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 of two PhD students (one current, secondary supervisor), and MSc / MRes students.
Education
- General Medical Council
- Other Postgraduate qualification (including professional), Certificate of Completion of Specialist Training | 2009
- University of London
- Doctorate, Doctor of Philosophy | 2009
- Royal College of Physicians
- Doctorate, Member of the Royal College of Physicians | 1997
- University of Cambridge
- Other higher degree, Master of Arts | 1995
- University of Oxford
- Doctorate, Bachelor of Medicine/ Bachelor of Surgery | 1994
- University of Cambridge
- First Degree, Bachelor of Arts | 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.