GOSH BRC-supported researchers Dr Philippa Mills and Professor Peter Clayton, have identified a fault in the gene proline synthetase co-transcribed homolog (bacterial) (PROSC) in children with a rare strain of vitamin-B6 dependent epilepsy who are un-resp
BRC-supported researcher, Dr Manju Kurian has collaborated with researchers at the University of Cambridge and the NIHR Rare Disease Bioresource, to identify a new genetic cause of complex early-onset dystonia.
Great Ormond Street Hospital (GOSH) reported a breakthrough application of gene-editing late in 2015 after a team led by NIHR-funded Professor Waseem Qasim and Professor Paul Veys treated an infant with an otherwise incurable form of leukemia.
Research led by Diagnostics and Imaging Theme lead, Professor Neil Sebire aimed to investigate which aspects of post-mortem examinations in stillbirths are most effective at providing a cause of death.
GOSH BRC-funded, Senior research associate, Dr Wendy Heywood has been awarded £98,000 from the UCL Confidence in Concept fund to develop newly discovered biomarkers for disease stratification of mucopolysaccharidosis (MPS) into a clinical assay for valida