Novel mutation in LHX4 leads to a severe form of hypopituitarism
9 Sep 2015, 4:47 p.m.
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.
Novel therapy for Battens Disease available on the NHS
19 Sep 2019, 4:04 p.m.
Patients at Great Ormond Street Hospital (GOSH) and across England are set to receive treatment for the rare nervous system condition Battens Disease, following a deal between the NHS and manufacturer Biomarin. The drug, which is called cerliponase alfa o
Positive preliminary results from the Rapid Paediatric Sequencing Project
28 Jun 2016, 1:56 p.m.
The Rapid Paediatric Sequencing Project (RaPs) is a pilot project aimed at evaluating the use of rapid whole genome sequencing (WGS) for rare diseases in a clinical setting. Successful results have been received from the first patients to have taken part.
Precision medicine improves growth for children with a rare form of rickets
6 Jul 2018, 10:39 a.m.
A new, targeted drug has been shown to significantly improve growth and control of rickets in children with X-linked hypophosphataemic rickets (XLH), a serious condition affecting about 300 children in the UK.
Prevention of neural tube defects in women taking additional supplements
22 Mar 2016, 2:57 p.m.
BRC-supported researchers Professors Andrew Copp and Nicholas Greene have led research which suggests that women who are at risk of having children with neural tube defects such as spina bifida may be able to reduce this risk by taking inositol (Vitamin B
Professor Neil Sebire receives grant to investigate the potential use of the minimally invasive autopsy
22 Mar 2016, 5:40 p.m.
Professor Neil Sebire – who is Diagnostics and Imaging Theme lead at the Great Ormond Street BRC has been awarded an NIHR HTA grant on behalf of the Minimally Invasive Autopsy team at Great Ormond Street Hospital.
Protein responsible for rare childhood disorder gives clues to common neurodegenerative conditions
9 Sep 2015, 4:10 p.m.
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.
Rapid DNA sequencing is saving the lives of critically ill children
27 Jul 2018, 9:29 a.m.
A new rapid sequencing technique has helped doctors at Great Ormond Street Hospital (GOSH) to quickly diagnose children in intensive care, enabling them to receive the best treatment and reducing the time they have to spend hospital.
Reduced risk of pulmonary embolism in children treated with long term parenteral nutrition
28 Jun 2016, 2:08 p.m.
Researchers at Great Ormond Street Hospital (GOSH) have shown a reduction in the incidence of pulmonary embolism in patients receiving parenteral nutrition after the introduction of a new mixed intravenous lipid emulsion.
Research sheds light on how muscle fibres degenerate in Duchenne Muscular Dystrophy
1 Oct 2018, 3:56 p.m.
A novel cell death process known as necroptosis is responsible for the degeneration of muscle cells over time in Duchenne muscular dystrophy (DMD), according to new research from the National Institute for Health Research (NIHR) Great Ormond Street Hospit
Research successes highlighted at BRC showcase event
16 Apr 2019, 4:27 p.m.
Over 150 people came along to the National Institute for Health Research (NIHR) GOSH Biomedical Research Centre showcase last month to hear about our latest research highlights - from cutting edge CAR-T therapies for leukaemia, to Oculome genomic sequenci
Research suggests need for long-term follow-up for patients with Kawasaki Disease
9 Sep 2015, 4:57 p.m.
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 approx
Role of important protein improves understanding of autoimmune diseases
22 Mar 2016, 4:59 p.m.
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
Some antibiotics prescribed during pregnancy linked with birth defects
24 Feb 2020, 12:01 p.m.
Children of mothers prescribed macrolide antibiotics during the first trimester of pregnancy are at an increased risk of major birth defects when compared with penicillin, and the drugs should be used ‘with caution’ according to a new study involving rese
Researchers at Great Ormond Street Hospital (GOSH) have taken the first steps towards using stem cells to repair damaged gut tissue in a pioneering new study that could hold promise for children and adults with serious gastrointestinal disorders.
Training the next generation of paediatric researchers
27 Nov 2018, 3:33 p.m.
Paediatric researchers from across the UK came together for a special training weekend hosted by the NIHR GOSH Biomedical Research Centre (BRC) earlier this month.
Treatment of the central nervous system as well as the peripheral organs proves beneficial in severe cases of Spinal Muscular Atrophy (SMA)
18 Dec 2015, 1:26 p.m.
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
