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Professor Simon Heales

Biography


UCL Professorial Fellow and Director of the Neurometabolic Unit, National Hospital, Queen Square, London, UK


Simon has been working in the area of pterin/monoamine metabolism for 40 plus years. Upon completing his PhD (in 1988) he joined Keith Hyland’s laboratory at the Institute of Child Health (ICH) in London. Here he continued his research into the pathogenesis and diagnosis of neurotransmitter disorders. During this period, Keith was developing assays for the diagnosis of neurotransmitter disorders via cerebrospinal fluid (CSF) analysis – the early days of what would become a highly specialised service within the UK National Health Service. Due to funding restraints, Simon left in 1989 to work in industry (and Keith went to the USA!). However, in 1990, Simon was able to return to ICH to work (with James Leonard) on fatty acid oxidation defects and further develop the CSF neurotransmitter service.


In 1993, Simon took up the position of Pewterers’ Fellow (Lecturer) at the Institute of Neurology (ION), Queen Square, where he established a research group focussing on oxidative stress and its impact upon neurotransmitter and mitochondrial function. During this time, Simon was able to maintain a collaboration with ICH to provide an ad hoc CSF neurotransmitter service.


Simon moved to the NHS (National Hospital, Queen Square) in 1995 and, with John Land and Iain Hargreaves, established the Neurometabolic Unit; a laboratory that provides highly specialised diagnostic testing for complex metabolic conditions, including mitochondrial and neurotransmitter disorders. Nowadays, the CSF service is fully embedded, accredited (ISO1589) and receives referrals from across the UK and beyond. The service continues to develop and recently (under the direction of Simon Pope) has moved onto a mass spectrometry platform; this with a growing expansion of metabolites that can be identified.

  

In 2009, Simon was appointed to the University College London (UCL) Chair of Clinical Chemistry and he split his time between the Neurometabolic Unit and the Great Ormond Street Hospital (GOSH) lysosomal enzyme lab where he became Head of Department.

 

In 2022, Simon semi-retired. He remains the Director of the Neurometabolic Unit and is a UCL Professorial Research Fellow.


Simon has supervised 20+ PhD students, published more than 200 papers. He is also a trustee of the MPS Society and the AADC Research Trust.

 

Presentation - Secondary Neurotransmitter Disorders: Laboratory Insights


  • Other clinical conditions may masquerade as a primary neurotransmitter disorder
  • Need to be aware of drugs that may create a perturbed CSF profile
  • Pre-analytical errors can create erroneous CSF profiles.