Biological Mass Spectrometry Centre

The Proteomic and Metabolomic Facility at the UCL Institute of Child Health (ICH) & Great Ormond Street Hospital (GOSH) was created for both clinical and basic research for the diagnosis and elucidation of disease mechanisms in rare diseases.  This combined proteomic and metabolomic mass spectrometry facility provides a unique environment whereby both clinical and non-clinical researchers work side by side, using state-of-the-art technology, to study the pathogenesis of childhood and adult disease. Our focus is patient-driven, translational research and aims to establish rapid, sensitive methods to study, diagnose and monitor the treatment of patients from GOSH, the National Hospital for Neurology and also nationally. The facility is unique in that it can develop any diagnostic marker found in the proteomic wing of the facility into rapid, multiplexed, diagnostic medical tests in the metabolomic mass spectrometry section. Working closely with GOSH chemical pathology department, diagnostic tests developed at ICH are subsequently transferred into the clinical setting and are offered as specialised tests to the NHS. The proteomic and metabolomic mass spectrometry facility is used primarily by the Biochemistry Research Group, which are part of the Clinical and Molecular Genetics Unit (CMGU). Our main focus of research is genetic metabolic disease.  However, the recent appointment of Professors Simon Heales and Paul Gissen to CMGU, have resulted in an expansion of the research groups’ interests to include neurometabolic and neurodegenerative disease.  This further bringing together of ICH /GOSH with our sister hospital the National Hospital for Neurology has resulted in post-doctoral fellows now working within our unit researching on adult-based disease projects such as Parkinson’s disease.  The Biochemistry Research Group currently working on genetic metabolic/neurometabolic disease is composed of 3 Professors, 2 Senior lecturers, 3 lecturers, 1 MD, 1 ACRF, 4 post-doctoral fellows, 6 PhD students and 3 research assistants.

Specialist ‘Omic’ services available within the Biological Mass Spectrometry Centre


Recently the NIHR Great Ormond Street Hospital Biomedical Research Centre (GOSH BRC) has created two new posts designed specifically to help medical researchers.  We provide advice, expertise and can facilitate the screening and identification of novel clinical biomarkers for rare childhood diseases. Our goal is to provide pilot data for further funding for joint collaborative projects and funding applications.  Our facility is unique in that we are able to not only find potential biomarkers but also validate and develop them into high-throughput tests for use in clinical chemical pathology laboratories.  We work closely with the chemical pathology laboratory at GOSH, headed by Professor Simon Heales, to translate tests developed in our research laboratories into frontline clinical tests in the specialist routine laboratories.

Proteomics Service

In addition to translational based research our centre is also part of the UCL Proteomics Platform which collaborates and provides access to biological mass spectrometry within UCL and industry alike. The Biological Mass Spectrometry Group provides a unique and full proteomic screening service offering 2D-DIGE / PAGE and mass spectrometry-based screening of samples.  Please contact Mr Ernestas Sirka for an informal discussion of the services we offer or if you wish to send samples for analyses. In addition, we also accept samples for research and specialised analytical clinical analyses for e.g. bile acid and sterol analyses.

Page last modified on 15 jan 13 15:17