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Dr Amy McTague
Dr Amy McTague profile picture
Appointment
  • Clinical Consultant Academic - Principal Research Fellow
  • Developmental Neurosciences Dept
  • UCL GOS Institute of Child Health
  • Faculty of Pop Health Sciences
Biography
I am a clinician scientist with a research group including a post-doctoral fellow and masters students at the Zayed Centre for Rare Disease Research in Children . I am an honorary consultant paediatric neurologist at Great Ormond Street specialising in paediatric epilepsy, in particular early onset epilepsies. As a consultant in the Complex Epilepsy team I see regional and national referrals and provide expert opinions on children with genetic epilepsies. I undertake Epilepsy Genomics clinics and have established an Epilepsy Genomics MDT for phenotypic and variant classification. I am a co-investigator in trials of novel therapies for Dravet syndrome and in a Dravet syndrome natural history study.
Research Themes
Research Summary

My research is focused on early onset genetic epilepsies, with a long-term vision of identifying novel disease-modifying therapies. During my PhD I identified a novel gene causing a rare early onset epilepsy and delineated the phenotype of a known disease gene. I was awarded an MRC fellowship to undertake this project which equipped me with a broad range of laboratory skills in molecular genetics and cell biology. Following my PhD, I obtained a GOSH NIHR BRC Catalyst Fellowship leading to the award of an MRC Clinician Scientist Fellowship. My research group at the ZCR is currently focused on the development of a 3D stem cell model of early onset epilepsy as a platform for the investigation of novel therapies. I am also leading Gene-STEPS, a prospective study within the IPCHiP consortium to investigate the impact of rapid whole genome sequencing on epilepsy and developmental outcomes. 

Appointments
01-MAR-2020 – 01-MAR-2024 MRC Clinician Scientist Fellow Developmental Neurosciences UCL Great Ormond Street Institute of Child Health, United Kingdom
Academic Background
2000   Bachelor of Medicine, Bachelor of Surgery University of Edinburgh
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