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Paediatric Hepatology & Rare Diseases

Liver disease is often seen as self-inflicted – but that couldn’t be further from the truth for many of the children we see.

This theme focuses on the most misunderstood and overlooked forms of liver disease – from rare genetic conditions to immune-driven damage in infants and adolescents.

By studying these conditions at their earliest stages, we’re not only improving the lives of young patients – we’re also uncovering insights that may help people with liver disease of all ages.

Our research here spans four key areas:

1. Understanding disease biology in children
Investigating how liver disease begins and progresses in the developing body, with a focus on immune dysfunction, systemic inflammation, and rare metabolic defects. Currently we are:

  • Profiling T cell subsets and immune regulation in children with portal hypertension

  • Researching systemic inflammation in children with chronic liver disease

  • Identifying somatic mutations in children with metabolic liver disorders

  • Mapping immunometabolic pathways in children with liver disease

2. Tackling rare and complex conditions
Leading studies on hard-to-diagnose and syndromic liver diseases, helping to improve detection, monitoring, and care pathways. Currently we are:

  • Investigating Fontan-associated liver disease

  • Studying primary sclerosing cholangitis (PSC) during pregnancy

  • Defining the natural history of autoimmune sclerosing cholangitis (ASC)

  • Leading the ASSERT trial of odevixibat in Alagille syndrome

3. Diagnostic innovation and disease modelling
Using patient-derived organoids and next-gen sequencing, we’re creating earlier, more accurate ways to diagnose childhood liver conditions – many of which currently take years to identify. Currently we are:

  • Developing of patient-derived and iPSC-derived cholangiocyte organoids for disease modelling

  • Carrying out whole genome and transcriptome sequencing in undiagnosed childhood liver disease

4. Child development, outcomes and nutrition

Recognising the holistic impact of liver disease, we are studying how it affects children’s learning, growth, and development – and testing practical ways to help. Currently we are:

  • Assessing brain maturation in children with liver disease

  • Evaluating educational outcomes for children with liver disease in England

  • Trialling medium-chain triglyceride supplements for infants with biliary atresia

  • Exploring polyphenol-rich dietary interventions for children with autoimmune liver disease

This research theme isn’t just about rare conditions. It’s about changing the way we understand liver disease itself – and giving children the best possible future.

Theme Leads

Dr Celine Filippi
Adjunct Senior Lecturer - King's College London 
Head of Quality & Stem Cell Research - King's College Hospital NHS Foundation Trust

 

 

Professor Richard Thompson
Professor of Molecular Hepatology - King's College London 
Honorary Consultant Paediatric Hepatologist - King's College Hospital NHS Foundation Trust

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