UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health

Prof Peter Clayton

Prof Peter Clayton

GOSHCC Professorial Research Associate

ICH Genetics & Genomic Medicine Prog

UCL GOS Institute of Child Health

Joined UCL
1st Dec 2010

Research summary

Our group is involved in the investigation of genetic disorders that cause neurological disease mostly in childhood. We use state-of the art mass spectrometry techniques to identify abnormal metabolites and proteins. From a knowledge of biochemical pathways we then identify candidate genes. The genes are sequenced and the effects of sequence alterations are determined by expression studies. Using these methods we have identified the genes responsible for pyridoxal phosphate-responsive epilepsy (PNPO), pyridoxine-dependent epilepsy (antiquitin), a disorder causing basal ganglia damage (hydroxy-isobutyryl-CoA hydrolase deficiency). Other diosrder we have helped to characterise include defects of cholesterol synthesis (e.g. Smith-Lemli-Opitz syndrome, desmosterolosis) and disorders of cholesterol catabolism e.g. alpha-methylacyl-CoA racemase deficiency. We have started looking at genetic disorders involving disturbed manganese homeostasis which can cause dystonia.


To be updated
MRCP, Paediatrics |
University of Cambridge
MA, Medical Sciences | 1975
University College London
MBBS, Clinical Medicine | 1974
University of Cambridge
BA, Medical Sciences | 1971