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GOSH awarded £37 million funding to carry out pioneering paediatric research

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.

Protein responsible for rare childhood disorder gives clues to common neurodegenerative conditions

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.

Sir Michael Rake appointed Chairman of Great Ormond Street Hospital for Children NHS Foundation Trust

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.

Treatment of the central nervous system as well as the peripheral organs proves beneficial in severe cases of Spinal Muscular Atrophy (SMA)

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.

Role of important protein improves understanding of autoimmune 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. 

Protein responsible for rare childhood disorder gives clues to common neurodegenerative conditions

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.

£75,000 boost for Duchenne Muscular Dystrophy gene therapy research

GOSH Biomedical Research Centre researcher Dr John Counsell has been awarded up to £75,000 of funding from the UCL Therapeutic Acceleration Support (TAS) Fund for a study exploring the use of novel vectors in gene therapy for Duchenne Muscular Dystrophy (DMD).

Accelerated approval request for a new drug for a rare childhood muscle disorder

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).

Clinical trial for a new stem-cell based therapy for a rare skin condition proves promising

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.

Identification of genetic mutation linked to complications associated with common birthmarks

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.

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