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UCL Great Ormond Street Institute of Child Health

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Prof Peter Clayton

Prof Peter Clayton

Address

Institute of Child Health UCL
30 Guilford Street
London
WC1N 1EH

Appointments

  • GOSHCC Professorial Research Associate
    ICH Genetics & Genomic Medicine Prog
    UCL GOS Institute of Child Health

Joined UCL

2010-12-01

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.
Award year Qualification Institution
MRCP
Member of the Royal College of Physicians
Paediatrics
To be updated
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

Keywords

Asperger Syndrome|*|Ataxias|*|Autism|*|Autism spectrum disorders|*|Basal ganglia|*|Brain|*|Cell culture|*|Dopamine|*|Enzyme assays|*|Epilepsy|*|FPLC/HPLC|*|Gene expression|*|Genetic manipulation (including knockout/knockin)|*|Genetic screens|*|Genetics|*|Investigation of neurometabolic disorders|*|Leukodystrophies|*|Linkage, mapping and positional cloning|*|Mental retardation|*|Metabolic myopathies|*|Mitochondria|*|Mitochondrial encephalomyopathies|*|Movement disorders|*|Parkinson's disease|*|Proteomics|*|Recombinant protein expression

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