Dr Uma Ramaswami

Dr Uma Ramaswami is a distinguished Consultant Paediatrician specialising in paediatric inherited metabolic disorders. Dedicated to providing compassionate, family-centred, and evidence-based medical care, she focuses on diagnosing and managing complex genetic and metabolic conditions in children and young people. Her reassuring clinical approach ensures that young patients and their families receive clear guidance and tailored management plans at every stage of their care.

Dr Ramaswami completed her postgraduate academic qualifications with a Master of Science in Clinical Paediatrics with Distinction and earned a Doctor of Medicine thesis focusing on skeletal dysplasia at University College London. She undertook specialist higher training in paediatric metabolic medicine across renowned tertiary paediatric healthcare centres. Alongside her clinical practice, she holds prominent national leadership roles, serving as the National Clinical Lead for the UK Paediatric Familial Hypercholesterolaemia Register and acting as a Principal Investigator for pivotal clinical trials in metabolic therapeutics.

Her clinical practice encompasses lysosomal storage disorders, inherited lipid disorders, and complex paediatric metabolic dysfunctions. Dr Ramaswami possesses extensive expertise in implementing advanced therapeutic interventions, including enzyme replacement therapies, for rare conditions such as Fabry disease. By combining translational research with individualised treatment strategies, she remains committed to improving health outcomes and quality of life for children with inherited conditions.