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Prof Peter Clayton
Institute of Child Health UCL
30 Guilford Street
  • GOSHCC Professorial Research Associate
  • ICH Genetics & Genomic Medicine Prog
  • UCL GOS Institute of Child Health
  • Faculty of Pop Health Sciences
Research Themes
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.
01-APR-2012 – 31-MAR-2015 GOSHCC Professorial Research Associate Clinical and Molecular Genetics Unit UCL Institute of Child Health, United Kingdom
Academic Background
1975 MA Master of Arts – Medical Sciences University of Cambridge
1974 MBBS Bachelor of Medicine/Bachelor of Surgery – Clinical Medicine University College London
1971 BA Bachelor of Arts – Medical Sciences University of Cambridge
  MRCP Member of the Royal College of Physicians – Paediatrics To be updated
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