Gill Rumsby

Previous positions Consultant Biochemist & Clinical Lead, UCL Hospitals NHS Trust 2000 – 2017 (head of Clinical Biochemistry laboratory with specialist expertise in the diagnosis of Primary Hyperoxaluria and disorders of steroidogenesis) Principal Biochemist UCL Hospitals 1988-2000 Senior Biochemist, Royal Marsden Hospital 1986-1988 Senior Biochemist Gt Ormond St Hospital for Sick Children 1982-1986 Post doc. fellow, Eleanor Roosevelt Institute for Cancer Research, Denver, 1979-1982 Bibliography More than 120 publications in peer reviewed journals, approximately 50% of which are related to primary hyperoxaluria and renal stones. The most recent are given below. 1. Groothoff J, Metry E, Deesker L, Garrelfs S F, Acquaviva C, Almardini R, Beck B, Boyer O, Cerkauskiene R, Ferraro P M, Groen L A, Gupta A, Knebelmann B, Mandrile G, Moochhala S, Prytula A, Putnik J, Rumsby G, Soliman N A, Somani B, Bacchetta J. 2023. Clinical practice recommendations for Primary Hyperoxaluria: an expert consensus from ERKNet and OxalEurope. Nature Reviews Nephrology in press 2. Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J on behalf of the Oxaleurope Consortium/ErkNet Guideline Workgroup. 2022. Genetic assessment in primary hyperoxaluria: why it matters. Pediatr Nephrol. 2022 Jun 13. doi: 10.1007/s00467-022-05613-2. Online ahead of print. 3. Giri D, Bockenhauer D, Deshpande C, Achermann J C, Taylor N F, Rumsby G, Morgan H, Senniappan S, Ajzensztejn M. 2020. Co-existence of congenital adrenal hyperplasia and Bartter Syndrome due to maternal uniparental isodisomy of HSD3B2 and CLCNKB mutations. Horm Res Paediatr 93(1):66-71 4. Stokes F, Acquaviva-Bourdain C, Hoppe B, Lieske J C, Lindner E, Toulson G, Vaz F M, Rumsby G. 2020. Plasma oxalate: comparison of methods. Urolithiasis 48(3):473-480 DOI 10.1007/s00240-020-01197-4 5. Milliner D S, McGregor T L, Thompson A, Dehmel B, Knight J, Rosskamp R, Blank M, Yang S, Fargue S, Rumsby G, Groothoff J, Allain M, West M, Hollander K, Lowther W T, Lieske J C. 2020 Endpoints for Clinical Trials in Primary Hyperoxaluria. CJASN 15(7):1056-1065 doi: 10.2215/CJN.13821119 6. Stokes F, Rumsby G. 2019. Primary hyperoxaluria and measurement of relevant metabolites. Clin Lab International 43:21-23 7. Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC. 2019. Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. J Endocr Soc. 2019 Oct 10;3(12):2341-2360. 8. Garrelfs S F, Rumsby G, Peters-Sengers H, Erger F, Groothoff, J W, Beck B B, Oosterveld M J S, Pelle A, Neuhaus T, Adams B, Cochat P, Salido E, Lipkin G W, Hoppe B, Hulton S A, on behalf of the OxalEurope consortium. 2019. Patients with Primary Hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kid Int 96:1389-1399 9. Woodward G, Pryke R, Hoppe B, Rumsby G. 2019. Rapid liquid chromatography mass spectrometry screening method for urinary metabolites of primary hyperoxaluria. Ann Clin Biochem.56(2):232-239 10. Rumsby G, Hulton S A. 2019. From pathogenesis to novel therapies in primary hyperoxaluria. Expert Opinion on Orphan Drugs 7(2):57-66 11. Wilkes E H, Rumsby G and Woodward G. 2018. Using machine learning to aid the interpretation of urine steroid profiles. Clin Chem 64 (11): 1586-1595 12. Rumsby G, Hulton SA. 2018. Primary Hyperoxaluria type 2. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 13. Clifford-Mobley O, Rumsby G, Kanodia S, Didi M, Holt R, Senniappan S. 2017.Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. Pediatr Nephrol 32(11):2159-2163 14. Hawton K, Walton-Betancourth S, Rumsby G, Raine J, Dattani M. 2017. Growth Hormone with Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia. Pediatrics 139(2). pii: e20160730. 15. Rumsby G. 2016. Genetic defects underlying renal stone disease. 2016. Int J Surgery 36:590-595. 16. Clifford-Mobley O, Sjogren A, Lindner E, Rumsby G. 2016 Urine oxalate biological variation in patients with primary hyperoxaluria. Urolithiasis 44:333-337 17. Fargue S, Knight J, Holmes RP, Rumsby G, Danpure CJ. 2016. Effects of alanine:Glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay. Biochim Biophys Acta. 1862:1055-1062 18. Ray E, Rumsby G, Smith R D. 2016. Biochemical composition of renal calculi from stone dust – a matched pair analysis.BJU Intl. 118(4):618-24 19. Phelan N, Williams E L, Cardamone S, Lee M, Creighton S M, Rumsby G, Conway G S. Screening for mutations for 17 β-hydroxysteroid dehydrogenase and androgen receptor in an adult female 46, XY DSD clinic. Eur J Endocrinol 2015 172, 745-751 20. Rumsby G. Molecular basis of primary hyperoxaluria and strategies for diagnosis. Expert Opinion on Orphan Drugs 2015: online doi10.1517/21678707.2015 21. Clifford-Mobley O, Hewitt L, Rumsby G. 2016 Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria.:Ann Clin Biochem 53(4):485-94 22. Menon R K, Ferrau F, Gabrovska P, Kurzawinski T, Rumsby G, Freeman A, Korbonits M, Chung T T. 2014 Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis. Endocrinology, Diabetes and Metabolism Case Reports 2014 November 2014;DOI:10.1530/EDM-14-0074 23. Clifford-Mobley O, Tims C, Rumsby G. Review of urine oxalate for the investigation of primary hyperoxaluria, and the comparability of oxalate excretion and oxalate:creatinine ratio. Ann Clin Biochem 2015 52:113-121 24. Williams E L, Bagg E A L, Mueller M, Vandrovcova J, Aitman T J, Rumsby G. Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. Mol Genet Genomic Med 2014 online doi:10.10002/mgg3.118 25. Cochat P, Rumsby G. Primary hyperoxaluria. New Engl J Med 2013 369:649-658 26. Mandrile G, van Woerden C, Berchialla P, Beck B B, Acquaviva Bourdain C, Hulton S A, Rumsby G. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with AGXT mutation type. Kidney Int 2014 86:1197-204 27. Rumsby G. Oxalate. Analyte monographs alongside the national laboratory of medicine catalogue.2013 http://www.acb.org.uk/site/Analyte%20monographs.aspnal 28. Fargue S, Rumsby G, Danpure CJ. Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta 2013 1832(10):1776-1783 29. Fargue S, Lewin J, Rumsby G, Danpure C J. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. J Biol Chem. 2013; 288:2475-2484 Recent Books Rumsby G and Woodward G. Disorders of steroidogenesis. Guide to steroid profiling and biochemical diagnosis. Ed. Rumsby G and Woodward G. Springer 2018 Rumsby G. Principles of Clinical Biochemistry. In Principles and Techniques of biochemistry and molecular biology. Ed. Hofman A and Clokie S. Cambridge University Press 2018