UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


Professor Simon Heales


Simon Heales is a UCL Professorial Research fellow, Consultant Clinical Scientist at GOSH (Enzyme Lab) and Director of the Neurometabolic Unit based at the National Hospital, Queen Square. These NHS laboratories provide highly specialised diagnostic and monitoring services for a wide range of conditions including disorders affecting mitochondrial, lysosomal, glycogen and neurotransmitter metabolism. Underpinning these activities is an active research (basic and translational) research programme. Close links exist with the mass spectrometry group (Prof Kevin Mills), mitochondrial group (Dr Shamima Rahman) and neurotransmitter/vitamin groups (Prof Manju Kurian, Prof Phillipa Mills, Prof Paul Gissen).  In addition, Prof Heales works closely with Dr Simon Eaton on elucidating mechanisms responsible for the efficacy of the medium chain fatty acid based ketogenic diet.

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 cellular metabolism.

Evaluating new diagnostic platforms for identifying patients with inborn errors of metabolism, in particular lysosomal, mitochondrial and neurotransmitter disorders.

Recent External Funding 

October 2022Vitaflo, industrial collaboration award, for a PhD student. Elucidation of the mechanisms responsible for the ketogenic diet. £117,000
May 2022MPS society – evaluation of digital microfluidics as a platform to improve diagnosis of patients with lysosomal disorders. £47,000
June 2022PTC Ltd – Utilisation of dried blood spots to diagnose patients with neurotransmitter disorders. £50,000