Biological Mass Spectrometry Centre

UCL Biological Mass Spectrometry Centre

Translating omics to the clinic.

The UCL Biological Mass Spectrometry Centre (BMSC) is based at the UCL Great Ormond Street Institute of Child Health and is a specialist mass spectrometry centre that supports Translational Research at UCL. 

The centre also provides specialist clinical assays for in-born errors of metabolism in partnership with Great Ormond Street Hospital and is supported both by the NIHR GOSH Biomedical Research Centre and self-funded through income from clinical diagnostics. Please note the centre is not a core facility. We work on a collaborative Team Science basis focusing on translational research and offering specialised expertise in assay development, particularly in targeted proteomics, metabolite and lipid analysis.

The centre houses the Translational Mass Spectrometry Research Groups of Prof Kevin Mills, Dr Wendy Heywood, Dr Philippa Mills and Prof Peter Clayton.

The BMSC has a history of developing specialised clinical assays that we have been providing for diagnostic services since 1984 with specialist analyses of urinary bile acids for inborn errors of metabolism. We were the first centre to develop the mass spectral screening method for the diagnosis and monitoring of Fabry disease. This assay is now used around the world in diagnostics and clinical trials and we are the main centre for Gb3 and lyso-Gb3 analyses in the UK through Great Ormond Street Hospital. The UCL BMSC is a world leading centre in developing Next Generation Testing (NGTs) which incorporates Ai and machine Learning to create multimodal multiomic assays to increase the specificity and sensitivity of testing. NGTs use panels of biomarkers instead of single biomarkers and is pioneering this approach for clinical assay testing for e.g. our group developed the world’s first blood test for Parkinsons disease blood test. This test is also predictive and can diagnose Parkinson’s disease up to 7 years before symptoms arise.  We have received NIHR funding for commercial development of this test and translation with the aim to go ‘live’ in patients in 2026. Similarly, we have also developed another NGT for hypertrophic cardiomyopathy that is currently used in clinical trials and also in development for translation and use in the clinic. Both assays have received FDA breakthrough status for development. 

The centre performs omic profiling and hypothesis generating analyses and in addition we develop clinical grade level assays for the targeted analysis of proteins, lipids and metabolites using Waters Xevo-TQ-S triple quadrupole mass spectrometers.