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Biomedical Research Centre news

GOSH BRC team define a new autoinflammatory disease caused by a mutation in WDR1

30 Mar 2017, 11:24 a.m.

Research carried out by BRC-funded Professor Paul Brogan and his team has defined a new autoinflammatory disease (AID) in humans with periodic fevers, immunodeficiency and intermittent thrombocytopenia.

GOSH BRC researchers have identified a genetic cause for a rare form of epilepsy

30 Mar 2017, 11:21 a.m.

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

Identification of a new genetic cause of complex early-onset dystonia

30 Mar 2017, 11:20 a.m.

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.

World first use of gene-edited immune cells to treat leukaemia: One year on

30 Mar 2017, 11:17 a.m.

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.

Study calls for further research to improve post mortem techniques for stillbirths

14 Dec 2016, 10:11 a.m.

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.