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Great Ormond Street Hospital

Great Ormond Street Hospital is an international centre of excellence in child healthcare. Together with their research partner, the UCL Institute of Child Health (ICH), they form the UK’s only academic biomedical research centre (BRC) specialising in paediatrics. Since its formation in 1852, the hospital has been dedicated to children’s healthcare and to finding new and better ways to treat childhood illnesses. The hospital and Institute were awarded National Institute for Health Research BRC status in 2007, and had the award renewed in 2011, in recognition of the research conducted in the organisation. The focus of the BRC is experimental and translational biomedical research; research that brings basic laboratory scientific advances into the clinical setting to maximise patient benefit. The North East Thames Regional Genetics Service based at GOSH hosts the NIPD service, which is funded by the genetic commissioners, NIHR programme grant, a variety of other grants and the GOSH-UCL ICH BRC. The unit provides a unique, safe prenatal diagnostic service based on the analysis of cell free DNA, the only accredited laboratory worldwide to offer a definitive NIPD service for selected monogenic disorders, without requiring confirmation via traditional invasive testing.

Role in project:

During the BOOSTB4 project the GOSH team will:

  1. Identify neonates/children with OI and recruit to the study for intervention or observation;

  2. Perform postnatal transplantation of fetal MSC to treat OI, and long term follow up of cases and controls;

  3. Perform exome sequencing of donor MSC;

  4. Perform rapid prenatal exome sequencing of on amniocytes or choronic villi for definitive diagnosis of cases suspected on prenatal ultrasound to have OI;

  5. Develop non-invasive prenatal diagnosis of OI for definitive diagnosis to facilitate appropriate recruitment;

  6. Undertake social-science research to explore and capture the views and experiences of parents undergoing MSC treatment either pre- or postnatally.


Contributing staff:

  • Professor Lyn Chitty

  • Dr Catherine DeVile

  • Dr Belinda Crowe

  • Dr Melissa Hill

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