Christos Proukakis

Associate Professor and Hon. Consultant Neurologist
UCL
Christos Proukakis' current research is focused on the genetics of Parkinson's disease, in particular the hypothesis of somatic mutations having a role. He is currently investigating this with a range of techniques designed to detect mosaicism for different types of mutations. This was recently published as 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 They have recently published a novel method for sequencing the important GBA gene using Nanopore long reads. Proukakis previously identified and studied a novel SNCA (alpha-synuclein) mutation (H50Q).? Christos has 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.

Sessions

November 8 2019, 08:00
 - 09:30
Discussion Workshop And Breakfast: Long Read And Short Read Sequencing Workshop – Implications For Sample Preparation, Translational Genomic Research As Well As Data And Bioinformatics Analysis
November 8 2019, 16:00
 - 16:30
Somatic CNV Detection In The Multiple System Atrophy Brain By Single Cell Sequencing