https://www.gosh.nhs.uk/our-research/our-research-infrastructure/nihr-great-ormond-street-hospital-brc/brc-news/?page=53

Biomedical Research Centre news

NHS to offer non-invasive prenatal testing to pregnant women

14 Dec 2016, 10:08 a.m.

A Non-Invasive Prenatal Test (NIPT) evaluated by a team led by BRC-supported Professor Lyn Chitty is to be introduced into the NHS for the screening of Down’s syndrome, Edwards’ syndrome and Patau’s syndrome.

Genetic mutation identified for novel form of severe combined immunodeficiency

14 Dec 2016, 10:03 a.m.

Research led by BRC Deputy Director Professor Bobby Gaspar and supported by the BRC-funded GOSgene facility, has found that a mutation in the linker for activation of T-cells (LAT) gene leads to a specific form of severe combined immunodeficiency (SCID).

Positive interim analysis of Phase 3 studies in spinal muscular atrophy

14 Dec 2016, 10:02 a.m.

Biogen and Ionis Pharmaceuticals announce positive results at interim analysis of two Phase 3 studies both trialling the drug nusinersen in patients with spinal muscular atrophy (SMA).

Accelerated approval granted for drug developed at GOSH

14 Dec 2016, 9:55 a.m.

The United States Food and Drug Administration (FDA) granted accelerated approval for a new medication to treat Duchenne muscular dystrophy (DMD). The drug, Eteplirsen, was developed by a UK consortium led by Novel Therapies Theme lead, Professor Francesc

Investigation into the effectiveness of an extended gene panel for the diagnosis of complex neurometabolic phenotypes

14 Dec 2016, 9:45 a.m.

BRC-supported Dr Philippa Mills, Professor Peter Clayton and Professor Paul Gissen have led an investigation into the effectiveness of a gene panel, targeting 614 genes, in establishing a diagnosis for patients presenting with a wide array of neurometabol