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
Trial suggests no adverse effects of vaginal progesterone prophylaxis for the prevention of preterm birth on child at age two
28 Jun 2016, 2:18 p.m.
Diagnostics and Imaging Theme Lead Professor Neil Sebire has teamed up with researchers from nine other establishments to carry out the largest randomised trial to investigate the long-term safety of vaginal progesterone prophylaxis for preterm births.