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LMCB - MRC Laboratory for Molecular Cell Biology

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Research Synopsis

I am studying Beta-Propeller Protein-Associated Neurodegeneration (BPAN), caused by mutations in WDR45, by creating an induced pluripotent stem cell (iPSc)-derived neuronal cell model of the disease. BPAN mainly affects the substantia nigra, hence I am differentiating iPSc’s derived from BPAN patients to dopaminergic neurons. WDR45 is an autophagy-related gene and my project aims to identify the pathogenetic mechanisms that lead to neuronal malfunction, but also to set up assays to be used in future drug screening, with the ultimate aim to identify new therapeutic options for patients with the disease.
 

Biography

2005 | Medical Degree (MBBS), Greece

Awards

2017 | 6th NBIA Symposium Young Investigator Award, Stevenson, WA, USA
2015 | International Child Neurology Congress ‘Young Investigator’ Award, Amsterdam, NL
2014 | First Prize, Great Ormond Street Hospital NeurosciencesTrainee of the Year

Funders

Action Medical Research
British Paediatric Neurology Association
 

Research Themes

Autophagy, Neurodegeneration

Technology

Light microscopy, High throughput screening, Bioinformatics