Name
Role
GMC number
My current role
I cover the general genetics clinic for the North West Norfolk area and provide a specialist neurogenetics clinic at Addenbrooke's hospital, where I mostly see patients who have hereditary spastic paraplegias and cerebellar ataxias.
In the lab, my group studies the molecular cellular pathology of hereditary neurological conditions, where we aim to understand how the inner machinery of the cells is disrupted to cause neurological disease.
Previous history
I have been an honorary consultant at CUH since 2000. Before that, I was a senior registrar / lecturer in clinical genetics from 1995, during which time I completed a PhD studying the molecular genetics of conditions called hereditary spastic paraplegias.
I moved to that post from Yorkhill hospital in Glasgow, where I was a registrar in medical genetics. Prior to that, I completed junior senior house officer posts in adult medicine at the royal and western infirmaries in Glasgow. I graduated in medicine from Glasgow University in 1991.
Membership and accreditations
I am a fellow of the Royal College of Physicians and Surgeons of Glasgow.
Personal interests
When I'm not at work, I enjoy walking, cycling, skiing and spending time with my family.
Publications
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ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic
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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
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Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia
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An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome