Stephanie Efthymiou

Research Fellow

I am originally from Cyprus but having spent the last decade studying and working in the UK, London is my second home. I have graduated from Imperial College as a Biologist, and also spent a year in Lyon, France working on the pathogenesis of viruses like Ebola and Marburg. In 2014, I completed a Masters degree in Molecular Biology and the Pathology of Viruses at Imperial College, where I developed a deep interest to understand the molecular bases of disorders, at that time of the common flu caused by the influenza virus. Since 2015, I have been working in the department of Neuromuscular disorders, helping set up the SYNAPS study group, funded by the Wellcome Trust Strategic Award for Synaptopathies, which aims to identify the genetic basis of rare paroxysmal disorders. In 2020, I completed my PhD under the supervision of Prof Henry Houlden studying the genetic and functional basis of rare neuropathies, movement and other episodic neurological disorders. Next-generation sequencing technology like exome and genome sequencing, together with functional studies and animal work are all important parts of my project.

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