https://www.gosh.nhs.uk/our-research/our-research-infrastructure/nihr-great-ormond-street-hospital-brc/brc-news/?page=54

Biomedical Research Centre news

NICE recommend drug trialled at GOSH for the treatment of Duchenne Muscular Dystrophy

16 Sep 2016, 11:02 a.m.

NICE have published final guidance recommending ataluren for the treatment of Duchenne Muscular Dystrophy (DMD) caused by a nonsense mutation, in children aged 5 years and over who are able to walk.

Research identifies novel intracellular pathway important for collagen homeostasis

16 Sep 2016, 11 a.m.

A collaboration between researchers at UCL, led by BRC-funded Professor Paul Gissen, has identified a novel intracellular pathway important for generic collagen homeostasis. Furthermore, this pathway was found to be dependent on two proteins that are defe

Identification of defective gene causing a form of childhood Parkinsonism

16 Sep 2016, 10:58 a.m.

Researchers led by BRC-supported Dr Karin Tuschl in collaboration with Dr Esther Meyer have discovered that a form of childhood Parkinsonism is caused by a defective gene encoding a metal transporter called SLC39A14

GOSH awarded £37 million funding to carry out pioneering paediatric research

14 Sep 2016, 5:39 p.m.

The NIHR Great Ormond Street Biomedical Research Centre (BRC) has been awarded £37 million in funding to drive forward translational research into rare diseases in children. The Centre is the only one of its kind in the UK dedicated to paediatric research

New technique to aid diagnosis of glycosylation disorders present at birth

28 Jun 2016, 2:21 p.m.

A study, supported by the NIHR Great Ormond Street BRC, investigated the use of a 2D-differential gel electrophoresis (DIGE) method that provides a global analysis of the serum glycoproteome (glycomic profiling). 2D-DIGE allows multiple samples to be run