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.
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.
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.
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.
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.
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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