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- MRC Career Development Award April 2018 Fellowship
- Department of Neuromuscular Diseases
- UCL Queen Square Institute of Neurology
- Faculty of Brain Sciences
I received my undergraduate Masters in Biology (MBiol) from the University of Bath (2005-2009), which included a year at Harvard Medical School (2007-2008) researching the neuromuscular disease spinal muscular atrophy (SMA). I then completed my MRC-funded DPhil at the University of Oxford (2009-2012), extending my work on SMA, while studying a number of other disorders impacting peripheral motor and sensory nerves. From 2012-2014, I worked in the laboratory of Dr. Zameel Cader on the genetic peripheral neuropathy Charcot-Marie-Tooth disease type 2D (CMT2D). During a four year, Wellcome Trust-funded Sir Henry Wellcome Postdoctoral Fellowship (2014-2018), I continued my research on CMT2D disease mechanisms at the UCL Queen Square Institute of Neurology working with Prof. Giampietro Schiavo. Funded by a Career Development Award (2019-2024) from the MRC, I am now a Senior Research Fellow in the Department of Neuromuscular Diseases, running my own small research group.


The fundamental question driving my research is how do mutations in widely expressed genes cause selective peripheral nerve deterioration? Mutations in many different genes required throughout the body manifest in a very specific detrimental effect on motor and sensory nerves, and I want to better understand the molecular and cellular mechanisms that cause this. Charcot-Marie-Tooth disease (CMT) is a large group of genetically diverse peripheral neuropathies that share the principal pathological feature of progressive motor and sensory impairment leading to muscle weakness and sensory defects. CMT type 2D (CMT2D) is caused by dominant, toxic gain-of-function mutations in a gene called GARS, which encodes glycyl-tRNA synthetase (GlyRS). GlyRS attaches the amino acid glycine to its partner transfer RNA (tRNA), thereby priming the tRNA for protein translation. This housekeeping function of aminoacylation explains the widespread and constitutive nature of GARS expression, but how do mutations that affect a protein found in all cells selectively trigger peripheral nerve degeneration?
Using CMT2D as a paradigm, my laboratory is studying causes of motor and sensory nerve degeneration and the mechanisms underpinning the dynamic process of axonal transport. By improving understanding of neuropathic pathways and associated pathologies, we aim to generate effective, pre-clinical gene therapies for genetic peripheral nerve diseases.
01-OCT-2018 | Senior Research Fellow | Department of Neuromuscular Diseases | UCL Queen Square Institute of Neurology, United Kingdom |
01-OCT-2014 – 30-SEP-2018 | Sir Henry Wellcome Postdoctoral Fellow | Sobell Department of Motor Neuroscience | UCL Queen Square Institute of Neurology, United Kingdom |
01-NOV-2012 – 30-SEP-2014 | Postdoctoral Research Scientist | Nuffield Department of Clinical Neurosciences | University of Oxford, United Kingdom |