UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


Professor Simon Heales


Simon Heales holds the UCL Chair of Clinical Chemistry and is the head of Chemical Pathology at GOSH and the Neurometabolic Unit based at the National Hospital, Queen Square. These laboratories provide highly specialised diagnostic and monitoring services for a wide range of conditions including disorders affecting mitochondrial, lysosomal, glycogen and neurotransmitter metabolism. The GOSH lab also hosts the largest newborn screening laboratory in the UK. Underpinning these activities is an active research (basic and translational) research programme. Close links exist with the mass spectrometry group (Dr Kevin Mills), mitochondrial group (Dr Shamima Rahman) and neurotransmitter/vitamin groups (Dr Manju Kurian, Dr Phillipa Mills, Dr Manju Kurian and Prof Paul Gissen).

Main Interests/Achievements

Current active research projects include :

Elucidating the mechanism of the ketogenic diet with a particular focus on medium chain fatty acids and mitochondrial function.

The study of lysosomal metabolism and the potential link between Gaucher disease and Parkinson's disease.

Oxidative stress and the effects upon brain cofactor/vitamin availability.

The potential role of alterations in lysosomal/mitochondrial metabolism and dopamine metabolism.

Biomarker discovery in lysosomal and neurodegenerative disorders.

Grants (Last 5 years & current)

Jan 2013 - December 2018Vitaflo, industrial collaboration awards, for 2 PhD students. Elucidation of the mechanisms responsible for the ketogenic diet. £140,000.
Jan 2010 - Dec 2013Genzyme, industrial collaboration, for research technician. Development of dried blood spot assays for lysosomal storge disorders. £200,000
October 2010 - September 2013CHRAT studentship. Elucidation of the mechanisms responsible for the loss of 5-methyltetrahydrofolate from the central nervous system. £70,000
Jan 2014 - December 2016UCL Impact studentship (with Genzyme). Gene therapy for Fabry disease. £70,000
Jan 2012 - Dec 2014Innovative medicine initiative EU Consortium - Stem cells for biological assays of novel drugs and predictive toxicology (StemBANcc). 850,000 Euro
Jan 2014 - December 2017Training in neurodegeneration and neurorepair. EU consortium. 500,000 Euro