At the end of 2016, the American Food and Drug Administration (FDA) granted approval for the use of Spinraza (nusinsersen) for the treatment of spinal muscular atrophy (SMA) in paediatric and adult patients. This is unprecedented for the SMA community wit
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-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.