Dr Uma Ramaswami

Dr Uma Ramaswami is a consultant in Inherited Metabolic Disorders with over ten years’ experience in the management of metabolic disorders, with a focus on Lysosomal storage disorders. As a consultant at the Lysosomal Disorders Unit at the Royal Free Hospital, her current role includes the management of adolescence and young adults with Lysosomal disorders (LSD)including the transition from paediatric centres to and supporting the clinical trail unit. She trained in paediatric metabolic disorders at Great Ormond Street and Temple Street childrens hospital in Dublin.

During her career as a consultant, she has managed a wide variety of Inherited Metabolic Disorders, to begin within a smaller unit and then in a larger unit in Manchester.

Previously, as a consultant in Paediatric Inherited Metabolic Disorders at the Royal Manchester Children’s Hospital, she worked alongside four colleagues, with busy inpatient, out-patient and on call commitments for all children with metabolic diseases.

At the Royal Free, we have a dedicated family clinics for family members Lysosomal disorders. These clinics were very popular providing a holistic service, strengthening and enhancing a trusting relationship between healthcare professionals, patients and families.

Managing children and young adults with complex needs requires a multi-disciplinary approach and Dr Ramaswami is actively involved setting up such meetings involving various subspecialties, laboratory, nurses and other health care professionals.

Her collaboration with local, national and international colleagues has been essential in developing guidelines and for continued clinical research. In her experience, children and young people with their families who have chronic, life limiting conditions in addition to their medical needs, have social, psychological, emotional, educational and financial needs. Working with and communicating with patients and their families, liaising with local agencies, patient organisations and advocacy teams is an important part of her role as a clinician, to provide comprehensive care to both children, young adults and to communicate effectively with their families.

As children with inherited Metabolic Disorders are surviving longer, emphasis on transition to the adult services is important and Dr Ramaswami has lead transitional services at the Royal Free for Lysosomal storage disorders, and work alongside adult consultant colleagues. She was involved in ‘Best Practice Guidelines’ for Transition in 2012, ensuring that all aspects of a young person’s care are addressed, when they move from children’s services.

At the Royal Free, we are the only centre in the country that has consultants with experience in the management of Lysosomal disorders on children and adults, working within the same department.

Dr Ramaswami is currently the National Clinical lead for the Paediatric Familial Hypercholesterolaemia Register in the UK. She has currently secured a European grant to expand it as an international registry, to understand the natural history of familial Hypercholesterolaemia and to asses the outcomes and safety of starting statins in childhood.

She is currently actively involved in teaching at undergraduate and postgraduate level in metabolic medicine. Having completed a Doctorate in Medicine from University College London, she has an active clinical research programme in Lysosomal Storage Disorders – with an emphasis on identification of early disease severity markers, developing severity scoring tools in rare diseases and in translational research on the effects of new therapies, with peer reviewed publications.

Dr Ramswami feels privileged to have the opportunity to do free clinics in India for children and adults with metabolic disorders, including Lysosomal Storage Disorders.