Research led by BRC funded Professor Kathy Pritchard-Jones has demonstrated the importance of prognostic biomarkers in improving risk stratification in Wilms’ Tumour (WT).
NICE have published final guidance recommending ataluren for the treatment of Duchenne Muscular Dystrophy (DMD) caused by a nonsense mutation, in children aged 5 years and over who are able to walk.
A collaboration between researchers at UCL, led by BRC-funded Professor Paul Gissen, has identified a novel intracellular pathway important for generic collagen homeostasis. Furthermore, this pathway was found to be dependent on two proteins that are defe
Researchers led by BRC-supported Dr Karin Tuschl in collaboration with Dr Esther Meyer have discovered that a form of childhood Parkinsonism is caused by a defective gene encoding a metal transporter called SLC39A14
The NIHR Great Ormond Street Biomedical Research Centre (BRC) has been awarded £37 million in funding to drive forward translational research into rare diseases in children. The Centre is the only one of its kind in the UK dedicated to paediatric research