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Job title
Consultant in inherited metabolic disorders, clinical lead, lysosomal storage disorders, associate professor, genetics and genomic medicine, UCL
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Biography
Dr Uma Ramaswami is a consultant in inherited metabolic disorders, clinical lead for the lysosomal disorders unit at the Royal Free Hospital and honorary associate professor at genetics and genomics medicine, University College London. She leads the Royal Free Hospital lysosomal disorders transition service from paediatrics to adults. Uma has twenty years of experience in managing children and young adults with inherited metabolic disorders, including lysosomal storage disorders, such as mucopolysaccharidoses, Fabry disease, Gaucher disease, Nieman Pick Diseases, alpha mannosidosis, metachromatic leukodystrophy, mucolipidoses, aspartylglucosaminuria etc. and has a special interest in paediatric familial hypercholesterolaemia.
Languages
English and Tamil
GMC number
4301073
- Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease. D'Amore S, Mckie M, Fahey A, Bleloch D, Grillo G, Hughes M, Ramaswami U.Orphanet J Rare Dis. 2024 Jan 11;19(1):13
- Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration.Lancet. 2024 Jan 6;403(10421):55-66
- Enzyme replacement therapy for late-onset Pompe disease. Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T.Cochrane Database Syst Rev. 2023 Dec 12;12(12):CD012993.
- Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme? Humphries SE, Ramaswami U, Hopper N.Curr Atheroscler Rep. 2023 Dec;25(12):1083-1091
- Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis. Linares D, Luna B, Loayza E, Taboada G, Ramaswami U.Mol Genet Metab. 2023 Dec;140(4):107714
- Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel. Stepien KM, Broomfield A, Cole D, Deegan PB, Forshaw-Hulme S, Hughes D, Jovanovic A, Morris L, Muir A, Ramaswami U.Orphanet J Rare Dis. 2023 Jul 21;18(1):203
- International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Watts GF, Gidding SS, Hegele RA, Raal FJ, Sturm AC, Jones LK, Sarkies MN, Al-Rasadi K, Blom DJ, Daccord M, de Ferranti SD, Folco E, Libby P, Mata P, Nawawi HM, Ramaswami U, Ray KK, Stefanutti C, Yamashita S, Pang J, Thompson GR, Santos RD.Nat Rev Cardiol. 2023 Dec;20(12):845-869
- Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease. D'Amore S, Sano H, Chappell DDG, Chiarugi D, Baker O, Page K, Ramaswami U, Johannesdottir F, Cox TM, Deegan P, Poole KE; MRC Gaucherite Consortium; MRC Gaucherite Consortium Collaborators.Radiology. 2023 Apr;307(1):e212779
- Editorial: Genetics of familial hypercholesterolemia: New insight-Volume II. Vuorio A, Ramaswami U, Holven KB.Front Genet. 2022 Oct 12;13:1041342
Translation of quality of life scale for pediatric patients with Fabry disease in Japan. Koto Y, Lee Y, Hadano N, Yamashita W, Kokubu C, Ramaswami U, Sakai N.Mol Genet Metab Rep. 2022 Mar 3;31:100854
Uma’s research interests relate to the understanding of the natural history and disease progression of inherited metabolic disorders and development of digital apps for capturing patient reported outcomes. She has been principal investigator for many pivotal paediatric and adult clinical trials for lysosomal disorders, including enzyme replacement, substrate reduction and chaperone therapies and has over 150 publications in metabolic medicine. Uma contributes as a National Institute of Clinical Excellence (NICE) Topic Expert, Communicating Editor for Journal of Inherited Metabolic Disorders (JIMD), teaching faculty and personal tutor for 4th to 6th year medical students at UCL, and an invited speaker at many national and international conferences, including lysosomal patient organisations led conferences.