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Miss Stephanie Efthymiou
711
UCL Institute of Neurology
Queen Square House
London
WC1N 3BG
Tel: 02034484069
Miss Stephanie Efthymiou profile picture
Appointment
  • Research Fellow
  • Department of Neuromuscular Diseases
  • UCL Queen Square Institute of Neurology
  • Faculty of Brain Sciences
Biography

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, such as of the common flu caused by influenza virus.

Research Summary

I am a member of the research teams of the Wellcome Trust Strategic Award for Synaptopathies as well as the ICGNMD. Our aim is to identify the genetic basis of rare paroxysmal disorders. I received my PhD under the supervision of Prof Henry Houlden and Dr Conceicao Bettencourt studying the genetic and functional basis of rare demyelinating neuropathies.

My current research focus is studying genetic basis of neurodevelopmental disorders, such as developmental delay, epileptic encephalopathies and malformations of cortical development, seen in patients from different ethnic groups.  Next-generation sequencing technology together with deep phenotyping together with functional studies and animal work are all important aspects of my research.

Appointments
01-JUL-2017 – 31-OCT-2020 PhD candidate Neuromuscular disorders UCL Institute of Neurology, United Kingdom
01-MAY-2015 – 01-JUL-2017 Research technician DCEE UCL Institute of Neurology, United Kingdom
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