Dr Roshni Vara

Specialises in metabolic liver disease in children and liver transplantation.

Dr Roshni Vara, is a consultant in paediatric inherited metabolic disease at Evelina London Children’s Hospital.

After completing her medical training in children’s liver disease, she went on to train in both paediatric hepatology and inherited metabolic diseases at Great Ormond Street Hospital and Evelina London.

She works closely with hepatology colleagues and manages patients with inherited metabolic diseases referred for liver transplantation.

Conditions

• Amino acid disorders, eg phenylketonuria (PKU), tyrosinaemia
• Lipid disorders.
• Glycogen storage disorders.
• Galactosaemia.
• Tyrosinaemia.
• Mitochondrial disorders.
• fatty acid oxidation defects, eg medium chain acyl CoA enzyme dehydrogenase deficiency (MCADD).
• Hypoglycaemia.
• Lysosomal storage disorders (LSDs).
• Organic acid disorders.
• Purine/pyrimidine disorders.
• Urea cycle disorders.

Treatments

• Liver transplant.
• General metabolic and newborn screening.
• Enzymology and biochemical genetics.
• Dietary intervention – reduce or eliminate intake of any food or substances that can’t be metabolised properly.

Research interests

Roshni’s special interests include inherited metabolic liver diseases in children, lysosomal acid lipase deficiency, phenylketonuria and liver transplantation for inherited metabolic diseases. She has contributed to several publications in peer-reviewed journals with national and international oral presentations.

Memberships of professional bodies

• General Medical Council (GMC).
• The Royal College of Paediatrics and Child Health (MRCPCH).