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Biomedical Research Centre news

Researchers awarded grant to set up new diagnostic service for encephalitis

30 Mar 2017, 11:29 a.m.

BRC-funded researchers have been awarded a two year grant to set up a new diagnostic service for encephalitis.

Spinraza: the first treatment for spinal muscular atrophy to receive FDA approval

30 Mar 2017, 11:28 a.m.

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

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.