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Prof Peter Clayton
Institute of Child Health UCL
30 Guilford Street
London
WC1N 1EH
Appointment
  • GOSHCC Professorial Research Associate
  • Genetics & Genomic Medicine Dept
  • UCL GOS Institute of Child Health
  • Faculty of Pop Health Sciences
Role
UCL Principal Supervisor
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.
Appointments
01-APR-2012 – 31-MAR-2015 GOSHCC Professorial Research Associate Clinical and Molecular Genetics Unit UCL Institute of Child Health, United Kingdom
Academic Background
1974   Bachelor of Medicine/Bachelor of Surgery University College London
    Member of the Royal College of Physicians To be updated
1975   Master of Arts University of Cambridge
1971   Bachelor of Arts University of Cambridge
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