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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.

​GOSH ranked fourth in North Thames region for clinical trial activity

Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH) has been ranked 4th in the North Thames region for number of active clinical research studies in 2016/17, in figures released today by the National Institute for Health Research (NIHR).

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.

A new, genetic diagnostic service for ciliopathy disorders has been launched

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.

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.

Using new wearable technology to monitor Niemann-Pick disease

A smartphone app, combined with wearable technology, will allow doctors to remotely monitor patients with conditions that limit their ability to voluntarily move their muscles. The app, known as 'aparito', uses a motion-tracking writsband to record the movements of patients with ataxia, and other related ambulatory conditions.

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