Researchers at GOSH and ICH have been the first team to identify a novel recessive mutation in the transcriptional regulator LHX4 in a family with severe hypopituitarism – a condition that describes the loss of all pituitary hormones.
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 simultaneously, eliminating gel-to-gel variations, and allowing direct overlay comparisons.
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.