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The BMSC has various research interests not just in rare diseases but we also have ongoing projects for various common diseases. To date there are 3 post-doctoral scientists, 4 PhD students, 3 research assistants 2 clinical research fellows and a technician working in the BMSC.
Members of the BMSC
Prof. Peter Clayton - is a consultant in hepatology and Inherited Inborn Errors of Metabolism, with a PhD in mass spectrometry and was the pioneer in bringing mass spectral research to the UCL Institute of Child Health. The Biological Mass Spectrometry Centre was originally developed by Professor Clayton to create GC-MS assays for the diagnosis of new inborn errors of sterol and bile acid metabolism. These were the first developed, translated and established routine diagnostic assay offered at the UCL Institute of Child Health.
Dr Kevin Mills - the BMSC is headed by senior lecturer Dr Kevin Mills who has been leading the BMSC since 2005. Kevin studied under Professor Clayton and obtained a PhD in mass spectrometry, analytical biochemistry and its application to the field of genetic metabolic disease. Kevin's expertise include QTOF, MALDI TOF, GC-MS, tandem mass spectrometry and 2d-PAGE/DIGE. Kevin works very closely with the metabolic team at GOSH to elucidate disease mechanisms, find new biomarkers and develop new tests/therapies for genetic metabolic disease. Our laboratory was the first to set up the mass spectral assay for the measurement of urine and plasma globotriaosylceramide (gb3) for the screening and monitoring of Fabry Disease. This test is now used all over the world to both screen and monitor the treatment of Fabry disease.
Dr Philippa Mills - is a lecturer at ICH whose research interest is in vitamin B6-responsive epilepsies; pyridox(am)ine 5’-phosphate oxidase (PNPO) deficiency and pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDE). From Philippa's research the BMSC has benefited from the set up of an LC-MS/MS method for the measurement of Alpha Amino Adipic Semialdehyde (AASA) which now offered as a routine diagnostic assay in the BMSC.
Dr Wendy Heywood - has worked in the BMSC since 2006. In this time she has established the BMSC proteomic service facility and helped with the growth and expansion of the BMSC into one of the largest Mass Spectrometry labs in UCL. Wendy now runs the GOSH BRC GOSomics platform along with Dr Jeremy Pryce whilst continuing with various biomarker discovery and translational research projects in dementia, hypertrophic cardiomyopathy, rare forms of kidney disease and Fabry disease to name but a few as well as training and supervising staff and students.
Dr James McCormick - is a research associate working as part of the EU funded StemBancc consortium to develop proteomic methods and assays for pluripotent stem cell (iPSC) research.
Dr Francesca Mazzacuva - Dr Francesca Mazzacuva is a research associate working with Prof. Peter Clayton and Dr Phillippa Mills on the development and validation of new quantitative isotopic dilution mass spectrometry methods for the determination of small molecules in biological fluids or tissues. After obtaining a European PhD in Pharmaceutical Chemistry, she specialised in Clinical Applications of Mass Spectrometry, developing strong skills on both GC- and LC-MS/MS for quantitative and qualitative analysis.
Dr Jeremy Pryce - is a part time clinical research associate in the BMSC and runs the GOSomics platform along with Dr Wendy Heywood. Jeremy's area of expertise is histopathology and he works in the GOSH histopathology department closely with Prof Neil Sebire
Mr Ernestas Sirka - is an experimental officer and PhD student. After undertaking an undergraduate degree at the University of Bath and an industrial placement at Pfizer he has joined Dr Kevin Mills’ laboratory to develop and implement novel UPLC-MS/MS clinical tests for a range of lysosomal storage disorders, neurological and urological conditions. More recently Ernestas has taken on a role within the EU-wide consortium for ‘Health and the Understanding of Metabolism, Aging and Nutrition’ (HUMAN) aiming to deliver a portfolio of newly discovered and validated biomarkers and therapeutic targets for better understanding of metabolic diseases and healthy aging. As part of his PhD he is also studying metabolic flux in disease cell lines using stable isotope labeling which has the potential to bridge the gap between multi-omics studies and phenotypes.
Miss Emily Bliss - is currently interrupting her medical school studies at UCL to pursue a PhD here under the supervision of Dr Kevin Mills and Dr Wendy Heywood. She is developing proteomic, lipidomic and metabolomic methods to investigate how the skin barrier changes with age and in diseases such as eczema.
Miss Emma Reid - is a PhD student under the supervision of Dr Philippa Mills and Prof Peter Clayton using Mass Spectrometry and Next-Generation Sequencing technologies to investigate the cellular and molecular pathology of neurometabolic disorders.
Dr Julian Baruteau is a Research Training Fellow in the Gene Transfer Technology Group at University College London since 2013 and a Honorary Clinical Fellow in Metabolic Medicine, Great Ormond Street Hospital in London. Prior to this post, he trained in Toulouse, France where he graduated as Paediatrician in 2008. He specialised in Inherited Metabolic Diseases in Paris and Toulouse, France where he worked as a Locum Consultant during four years. He gained experience in Liver Cell Therapy in Metabolic Diseases in Pr Sokal’s laboratory, Catholic University of Louvain, Brussels, in Belgium in 2011. Since 2012 he has joined the Metabolic team in Great Ormond Street Hospital as a Clinical Fellow. In 2013, he performed a national survey in the UK about a urea cycle defect called argininosuccinic aciduria, a rare inherited metabolic disorder. In order to improve patients’outcome, Action Medical Research supports his efforts to develop a gene therapy approach for this disease
Mr Ivan Doykov - runs the BMSC Gb3 diagnostic service and proteomic service.