Targeted Lipid Analysis

The Biological Mass Spectrometry Centre at UCL GOS ICH is a core contributor to the NIHR GOSH BRC and MRC Rare Diseases Node, delivering targeted lipid and metabolite analyses to advance translational research. 

The centre specialises in high-resolution and targeted mass spectrometry workflows for biomarker discovery, validation, assay development, and clinical interpretation across rare disease cohorts and  has expertise in specialist lipid analysis in particular lysosomal and neurolipids. 

Below are publications and a list of lipids we have created methods for and applied to human and disease models in rare disease and neurodegenerative disorders.

• Jenny Hällqvist1, Christina E Toomey2,3,4, Rui Pinto5,6,7, Tomas Baldwin1, Ivan Doykov1, Anna Wernick4, Mesfer Al Sharhani8,9, James Evans3,4, Joanne Lachica3, Simon Pope8, Simon Heales8, Simon Eaton10, Kevin Mills1, Sonia Gandhi3,4 and Wendy E Heywood1 Multi-Omic Analysis Reveals Lipid Dysregulation Associated with Mitochondrial Dysfunction in Parkinson’s Disease Brain In press Nature communications Nov 2025
• Nikolaenko V, Vootukuri R, Eaton S, Hällqvist J, Baldwin T, Mills K, Heywood W. Glucosylsphingosine affects mitochondrial function in a neuronal cell model. Commun Biol. 2025 Aug 21;8(1):1260. doi: 10.1038/s42003-025-08684-7.
• Hull AJ, Atilano ML, Hallqvist J, Heywood W, Kinghorn KJ. Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency. Hum Mol Genet. 2024 Dec 6;33(24):2111-2122. doi: 10.1093/hmg/ddae143.
• Spiewak J, Doykov I, Papandreou A, Hällqvist J, Mills P, Clayton PT, Gissen P, Mills K, Heywood WE. New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases. Int J Mol Sci. 2023 Jun 15;24(12):10177. doi: 10.3390/ijms241210177.
• Nikolaenko V, Warnock DG, Mills K, Heywood WE. Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease. Hum Mol Genet. 2023 Jul 20;32(15):2464-2472. doi: 10.1093/hmg/ddad073.

• Papandreou A, Doykov I, Spiewak J, Komarov N, Habermann S, Kurian MA, Mills PB, Mills K, Gissen P, Heywood WE; Clinical cohort recruitment and characterization group. Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Dev Med Child Neurol. 2022 Dec;64(12):1539-1546. doi: 10.1111/dmcn.15334. Epub 2022 Jul 14