Institute of Immunity and Transplantation


Uma Ramaswami


Research area

Lysosomal Storage Disorders, Paediatric Familial Hypercholesterolaemia, other Inherited Metabolic Disorders.

Research summary

The Lysosomal storage disorders (LSDs) are a group of rare inherited disorders. They are usually due to genetic lesions giving rise to mutant enzymes which disturb diverse metabolic pathways. The clinical disorders typically result from organ and cellular dysfunction due to substrate accumulation.

Our work has explored the underlying pathogenesis of LSDs, described the clinical phenotype of the disorders, and established the role of treatments including enzyme replacement therapy.

Over the past decade, we have in partnership, studied the natural history of Fabry Disease in children and identified key early clinical markers of disease severity, and have also undertaken pivotal clinical trials of enzyme therapy in children with LSDs.

Patient involvement

Having been the lead clinician for the paediatric LSD service in Cambridge, followed by a two year secondment to the largest paediatric lysosomal unit in Manchester, I moved to the Royal Free Hospital in 2013. I have joined a dynamic team who lead the way in clinical service, research and development in this field. I currently support the Transition and young adult service at RFH providing a one stop multidisciplinary service for late adolescence and young adults with LSDs; and participating in the ongoing clinical research programme for Fabry Disease in particular and other LSDs.

Since 2012, I have also been the Clinical Lead for the National Paediatric Familial Hypercholesterolaemia Register and work closely alongside Professor Steve Humphries, Professor of Cardiovascular Genetics at UCL. The primary goal of this register is to capture data on the management of paediatric FH in the UK, and in particular the use and safety of statins in children.

With recent UK Cardiovascular Diseases and Cascade Screening initiatives, this is an area of increasing importance and the Royal Free already has a well-established adult lipid clinic. I currently review children with FH in the paediatric clinic with the ultimate goal of providing a comprehensive multidisciplinary service.


Selected publications