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Catherine L'Estrange stories

Jul 24, 2026

11-Year-Old London Girl Becomes First UK Patient to Receive Gene Therapy for Rare Sight-Robbing Condition

Catherine L'Estrange from North Acton became the first patient in the UK and second in the world to receive groundbreaking gene therapy for Bardet-Biedl syndrome, a rare condition that progressively causes blindness in children. The treatment, performed at St Helier Hospital in March, involves injecting healthy copies of a gene directly into the eye.

Jul 24, 2026·5 sources
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Top claims

  • ▪St Helier Hospital collaborated with experts at Great Ormond Street Hospital and Moorfields Eye Hospital to identify eligible patients using genetic tests.
  • ▪Catherine L’Estrange was diagnosed with Bardet-Biedl syndrome at a few weeks old, which is highly unusual as most children with the condition are not diagnosed until primary school.
  • ▪Bardet-Biedl syndrome is a rare genetic condition caused by mutations in one of 20 different genes, affecting approximately one in 100,000 births in the United Kingdom.

Topics

Rare diseasesGene therapyMedical innovation

Related entities

St Helier Hospital
United Kingdom
London

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