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.
This morning, the Chancellor of the Exchequer George Osborne visited Great Ormond Street Hospital (GOSH) to announce a new £800 million boost to biomedical research through the National Institute for Health Research (NIHR).
Kawasaki disease is a rare condition that causes blood vessels to become inflamed and swollen. It predominantly occurs in children under the age of five. If left untreated, it results in balloon-like swellings (aneurysms) in the coronary vessels of approximately 25% of cases. To date, the cause of this disease remains unknown.
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.
A new treatment that uses ‘molecular scissors’ to edit genes and create designer immune cells programmed to hunt out and kill drug resistant leukaemia has been used at Great Ormond Street Hospital (GOSH).
A team led by Professor Paolo De Coppi has announced that they are set to build and transplant an oesophagususing organs harvested from pigs and then modified using a child’s stem cells.The organs will be created for children who are born with a severe cases of oesophageal atresia, where their oesophagus has not formed properly.
The UCL Technology Fund (UCLTF) has approved an investment of up to £1 million to support researchers Professor Adrian Thrasher, Professor Bobby Gaspar, and Dr GiorgiaSantilli in developing a gene therapy approach for treating p47phox-deficient chronic granulomatous disease (p47-CGD).
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.
In a collaboration between Great Ormond Street Hospital (GOSH) North-East Thames Regional Genetics and the UCL Institute of Child Health, a new genetic diagnostic service for ciliopathy disorders has been launched for service delivery to the NHS.
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.
At the end of 2016, the American Food and Drug Administration (FDA) granted approval for the use of Spinraza (nusinsersen) for the treatment of spinal muscular atrophy (SMA) in paediatric and adult patients. This is unprecedented for the SMA community witnessing the first approved drug for this disease.
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.
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.
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 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.