Research and publications from the Metabolic Medicine department

The Metabolic Medicine Department has a strong relationship to the Clinical and Molecular Genetics Unit at the Institute of Child Health (at UCL).The Academic Unit is part of the genes, development and disease research theme at the ICH/University College London.


Many of the senior medical staff have joint clinical and academic appointments, highlighting the translational nature of much of the work undertaken in the unit.

All consultants are actively involved in research focusing on improving the diagnosis and treatment of metabolic disorders of childhood.

Key research areas

Current key research areas in metabolic medicine include:

inherited metabolic and vitamin responsive disorders: Professor Peter Clayton, Dr Philippa Mills

mitochondrial diseases: Prof Shamima Rahman

congenital disorders of glycosylation: Dr Stephanie Grünewald

neurometabolic disorders: Prof Paul Gissen

neurometabolic and storage disorders: Prof Simon Heales

metabolomics and proteomics: Dr Kevin Mills

Our research teams have strong links with the genetic and cytogenetics diagnostic laboratories; close links with the internationally renowned Clinical Genetics Service at Great Ormond Street Hospital (GOSH) and North Thames (East) Clinical Genetics Service; and associations with the specialist biochemical, metabolic and enzyme laboratory services at GOSH/ICH.

Additional areas of research

Additional areas of research collaboration are offered by:

GOSH/ICH Biomedical Research Centre

This translational research grouping is the only Biomedical Research Centre (BRC) devoted to children's health in the UK. Experimental medicine approaches to genetic disease, gene therapy and novel treatments of childhood disease form the BRC's main themes.

University College London (UCL) Institute of Neurology at Queen Square

Strong collaborative links exist in epilepsy, neuroimaging and the recently established MRC Neuromuscular Diseases Centre, which promotes collaborative research on therapy for adults and children with neuromuscular disorders.

Comprehensive Biomedical Research Centre

This large grouping of (mainly) adult-focused translational research at UCLH/UCL interfaces closely with the GOSH/ICH BRC.

UCL Neuroscience

A grouping of all neuroscientists at UCL, ranging from basic science to clinical.

UCL Partners

UCL Partners recently-formed confederation of UCL and its associated NHS trusts. This brings together translational research at UCL and UCLH, with links to ICH via general paediatrics and neonates. UCL Partners was recently designated a UK Academic Health Sciences Centre. The Child Health Theme of UCL Partners is led from ICH/GOSH by Professor David Goldblatt.