Uma Ramaswami

Dr. Uma Ramaswami, MD, MSc, is a Consultant Paediatrician in Inherited Metabolic Disorders at the Lysosomal Disorders Unit at the Royal Free Hospital, London. She specializes in lysosomal storage disorders (LSDs), enzyme replacement therapies, and pediatric metabolic diseases, ensuring that children with rare genetic conditions receive advanced clinical care.

Dr. Ramaswami trained in Inherited Metabolic Disorders at Temple Street Children’s Hospital in Dublin and Great Ormond Street Children’s Hospital in London. She completed an MSc in Clinical Paediatrics (Distinction) and an MD thesis on Skeletal Dysplasia at University College London, refining her expertise in pediatric metabolic dysfunctions.

She has served as a Principal Investigator for pivotal clinical trials of enzyme replacement therapies in children with LSDs, contributing to advancements in treatment strategies for metabolic disorders. Her research focuses on understanding the natural history and disease progression of LSDs, with a particular emphasis on Anderson-Fabry Disease. Her work integrates clinical practice with translational research, ensuring that scientific discoveries translate into improved patient outcomes.

Beyond her research, Dr. Ramaswami is the National Clinical Lead for the UK Paediatric Familial Hypercholesterolaemia Register, where she oversees data collection and treatment strategies for children with inherited cholesterol disorders. She is actively involved in medical education, mentorship, and policy development, shaping best practices in pediatric metabolic medicine.

‍