Uma Ramaswami

Uma Ramaswami

(London, UK)

Uma Ramaswami MBBS, DCH, MSc., MD, FRCPCH.

Uma Ramaswami is a Consultant in Inherited Metabolic Disorders Lysosomal Disorders Unit Institute of Immunity and Transplantation 2nd Floor Royal Free Hospital Pond Street London NW3 2QG.

She trained in Inherited Metabolic Disorders in Temple Street Hospital, Dublin and Great Ormond Street Children’s Hospital; she completed MSc in Clinical Paediatrics (Distinction) and MD from University College London on Skeletal Dysplasias.  Uma has a special interest in clinical research relating to the understanding of the natural history and disease progression Inherited Metabolic Disorders; and has also been a Principal Investigator for pivotal clinical trials of enzyme replacement in children with Lysosomal Storage Disorders (LSDs) and related disorders with a focus on Anderson-Fabry Disease. She has over 50 peer reviewed publications on this subject. At the Royal Free Hospital, Uma is leading research relating to LSDs in children, adolescents and young adults and is also the National Clinical Lead for the UK Paediatric Familial Hypercholesterolaemia Register.

Uma is actively involved in the Transition service for young patients with LSDs at the Royal Free Hospital with her adult colleagues; and leads the family clinic for Fabry Disease, a one stop clinic for parents and children with Fabry Disease.

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