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Clinical expertise

Dr Roshni Vara specialises in metabolic liver disease in children and liver transplantation.

She regularly treats patients with conditions such as:

  • 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

She performs treatments such as:

  • 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


Biography

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.


Research

Her research interests include:

  • inherited metabolic liver diseases in children
  • lysosomal acid lipase deficiency
  • phenylketonuria
  • liver transplantation for inherited metabolic diseases

Publications

She has contributed to several publications in peer-reviewed journals with national and international oral presentations.