ICH 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.