
Name
Role
GMC number
My current role
I have general genetics clinics in Kings Lynn and specialist neurogenetics clinics at Addenbrooke's hospital. I have expertise in mitochondrial disorders and work with the Cambridge Mitochondrial Clinical Research Group. I also run a joint clinic with paediatric neurology for management of children with Congenital Insensitivity to Pain.
Previous history
Before joining CUH, I completed my foundation training and core medical training in London. During my registrar training, I did a PhD in mitochondrial disorders.
Membership and accreditations
- Royal College of Physicians
- European Society Human Genetics
- British Society Genomic Medicine
Personal interests
When I'm not at work, I enjoy spending time with my family and playing the piano.
Publications
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Congenital Insensitivity to Pain Overview
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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia
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Mitochondrial Diseases: A Diagnostic Revolution
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
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Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes