Scientific Board

Dr. Stephanie Efthymiou has 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, she completed a Master’s degree in Molecular Biology and the Pathology of Viruses at Imperial College, where she developed a deep interest in understanding the molecular bases of disorders, such as the common flu caused by influenza virus.

In 2015, she joined UCL Queen Square Institute of Neurology as a member of the Wellcome Trust Strategic Award for Synaptopathies. She aimed to identify the genetic basis of rare paroxysmal disorders and helped to establish the SYNAPS Patient Group which has collected over 30,000 patient samples to date.

In 2020, she received her PhD in neurogenetics, under the supervision of Prof Henry Houlden and Dr Conceicao Bettencourt studying the genetic and functional basis of rare demyelinating neuropathies in children. She helped establish a genetic link for NFASC and NARS1 with early onset neurodevelopmental disorder. She continued with an ICGNMD Post-doctoral Research Fellowship under the supervision of Prof Michael Hanna. She is currently working towards implementing and refining robust genetic testing protocols and ensuring smooth progress via careful sample and data curation.

Her current research focus is studying the genetic basis of developmental delay, epileptic encephalopathies, and malformations of cortical development, seen in patients from different ethnic groups. Next-generation sequencing technology together with deep phenotyping and functional animal studies are all important aspects of her research. Recently, she helped establish Optical Genome Mapping as a diagnostic test for FSHD and other repeat disorders at UCL.

In parallel, she is very keen to help families affected by rare disorders and thus works very closely with patient groups. In the past 2 years, she has been involved with setting up the Rory Belle Foundation for NARS1 disease, important for building a patient community and driving treatment research and development.