Uma Ramaswami FRCPCH, MD (Royal Free London Hospitals, University College London Partners)
Uma is a Consultant in Inherited Metabolic Disorders and Clinical Lead for the Lysosomal Disorders
Unit at the Royal Free Hospital, London and an Honorary Senior Research Associate, Genetics and
Genomics Department, University College London. Uma has a special interest in clinical research
relating to understanding of the natural history and disease progression of inherited metabolic
disorders. Uma leads transition services for young patients with inherited metabolic disorders and is the
national clinical lead for the UK paediatric familial hypercholesterolaemia register. Uma has been a
principal investigator and co-investigator for many pivotal clinical trials for lysosomal disorders. Uma
has over 150 research works with 5200 citations, h-index 35, i10-index 62. Uma is a guest editor for
Frontiers in Genetics and authored several chapters in metabolic medicine. Uma is a National Institute
of Clinical Excellence (NICE) topic expert for FH and Lysosomal Disorders, Communicating Editor
for Journal of Inherited Metabolic Disorders (JIMD), member of the teaching faculty at University
College London, and an invited speaker at many national and international conferences, including
patient organisation led conferences.