Stephanie Efthymiou is a Postdoctoral Research Fellow at the MRC-funded International Centre for Genomic Medicine in Neuromuscular diseases. Dr. Efthymiou performed her PhD studies in the laboratory of Prof. Henry Houlden at UCL Queen Square Institute of Neurology, where she used genomic sequencing approaches to identify novel genetic etiologies in the pediatric epilepsies, including NARS1. Her team at UCL uses genomic technologies to define the molecular basis of epilepsy and neurodevelopmental disorders, as well as the development of knock-in mouse models.

Her postdoctoral work in the laboratory of Prof. Mike Hanna involves creating a transcontinental genomics research and capacity building partnership between the UK and lower and middle-income countries. Her work involves harnessing genomics to improve the lives and heath outcomes of children and adults with neuromuscular diseases (NMDs) across the globe. Her independent research was made possible by early career awards from the A.G. Leventis Foundation, the Guarantors of the Bran, the Genetics Society, Solve-RD - solving the unsolved rare diseases program and the European Joint Programme on Rare Diseases.

Dr Henry Houlden has clinical expertise in inherited neurological disorders, movement disorders such as multiple system atrophy, ataxia, leukodystrophy, epilepsy and paroxysmal conditions, spastic paraplegia and neuromuscular conditions, including seeing several NARS1 diagnosed patients. In addition to diagnosing and caring for children and adults with neurological disorders, Dr Houlden leads a neurogenetics laboratory in the Department of Neuromuscular Disorders at the University College London (UCL) Institute of Neurology.

As part of an international collaborative effort, researchers in his lab are investigating the genetic causes of neurological conditions in families. The collection of clinically characterized neuropathological presentations is pivotal to future research. The combination of genetic, functional cell biology and neuropathological methods is a particularly powerful approach for understanding neurological diseases and their pathological processes in families. These genetic and neuropathological studies integrating functional in-vitro research will translate this research into disease modifying treatment for human diseases.

As deputy lead Principal Investigator of the Synaptopathies Initiative, he aims to understand inheritance patterns of disease in diverse and underrepresented populations. Using exome and genome sequencing his lab has been responsible for identifying the NARS1 disease with functional experimental validation in human tissue and animal models. Given his clinical and research expertise, Dr Houlden is a key member for driving the agenda of The Rory Belle Foundation forward.