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.
A new mutation in the protein STAT2 has been identified in patients with mitochondrial disease. These findings could also be beneficial for more common neurodegenerative diseases, including Alzheimer’s, Huntington’s and Parkinson’s diseases.
The prospect of widespread access to a life-changing drug for children with a rare muscular disorder is a step closer today after the United States Food and Drug Administration (FDA) granted accelerated approval for a new medication.
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.
Sir Michael Rake, currently Chairman of the BT Group plc, has been appointed as the new Chairman of Great Ormond Street Hospital for Children NHS Foundation Trust and will take up the position in November 2017.
Professors Bobby Gasper and Adrian Thrasher, both members of the BRC senior management team, have been awarded the UCL Business Award, in recognition of their work on the spin-out company Orchard Therapeutics.
A pre-clinical study investigating treatment options for a severe form of Spinal Muscular Atrophy (SMA) has demonstrated that optimal treatment of a morpholino antisense oligonucleotide drug is achieved when the drug reaches the central nervous system as well as the peripheral organs.
Researchers – led by Great Ormond Street BRC-supported Professor Tessa Crompton in collaboration with the Paediatric Department at Oxford University – have identified the role of a key protein in normal development of the thymus, an important organ of the immune system.
A new protein that appears to play a role in mitochondrial disease – a rare condition where a lack of energy in cells means that they can’t function properly – could prove to be important in conditions such as Alzheimer’s, Parkinson’s and Huntington’s diseases.
Peut-Être Theatre will be undertaking a period of creative research at Great Ormond Street Hospital (GOSH) in September and October 2017 in partnership with GOSH Arts, patients and families and the Psychological Services Department.
A drug for Duchenne Muscular Dystrophy (DMD), originally developed by BRC Theme Lead Professor Francesco Muntoni’s Consortium in the UK, has been filed by Sarepta Therapeutics for accelerated approval by the United States Food and Drug Adminstration (FDA).
Promising findings from a trial for a new stem-cell based therapy for a rare skin condition have been published in the Journal of Investigative Dermatology. The study, which involved intravenous injections of stem-cells, has led to an improvement in the quality of life for the subjects and their carers.
Research led by BRC-supported Dr Veronica Kinsler has found that a subset of a common type of birthmark, which is associated with severe complications, is caused by activating mutations in the genes GNAII and GNAQ. These findings could lead to early identification of infants at risk of serious complications.
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.
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.
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 defective in Arthrogryposis Renal dysfunction and Cholestasis (ARC) syndrome.