The results of a first-in-human clinical trial of gene therapy to treat a common cause of genetic blindness have shown partial reversal of sight loss in some patients. X-linked retinitis pigmentosa, caused by mutations in RPGR gene, is the most common cause of blindness in young people. The inherited mutations lead to degeneration of light … Read more
News for Genomic Medicine
Genes and height matter for carpal tunnel syndrome
Researchers from Oxford and Estonia have found further evidence that a person’s genetic make-up and height can influence whether they will develop carpal tunnel syndrome (CTS). In the first ever genome-wide association study of CTS, published today in Nature Communications, the researchers from the University of Oxford and the Estonian Genome Center revealed 16 specific locations in chromosomes associated with … Read more
Oxford meeting looks at legacy of 100,000 Genomes Project and what comes next
A meeting involving clinicians, academics and patients has taken place in Oxford to celebrate the successes of the 100,000 Genomes Project and how genomic medicine becomes a routine part of NHS care in future. The meeting, held on 28 February, Rare Diseases Day, at the University of Oxford’s Richard Doll Building, was organised by the … Read more
World’s first gene therapy operation for common cause of sight loss carried out
Researchers in Oxford have carried out the world’s first gene therapy operation to tackle the root cause of age-related macular degeneration (AMD), the UK’s most common cause of sight loss. The procedure was carried out at the John Radcliffe Hospital by Prof Robert MacLaren, Professor of Ophthalmology at the University of Oxford, with the support … Read more
Genetic changes associated with physical activity emerge thanks to machine learning pioneers
Time spent sitting, sleeping and moving is determined in part by our genes, University of Oxford researchers have shown. In one of the most detailed projects of its kind, the scientists studied the activity of 91,105 UK Biobank participants who had previously worn an activity monitor on their wrist for a week. The scientists taught … Read more
Health minister visits Oxford BRC
The Health Minister, Lord O’Shaughnessy, visited the NIHR Oxford BRC on Wednesday 30 May to take a look at the ground-breaking research that is taking place in the fields of cancer and genomics. He was accompanied on the tour by Oxford BRC Director Prof Keith Channon and Head of Research Operations Dr Vasiliki Kiparoglou. Lord O’Shaughnessy … Read more
New funding allows John Radcliffe to expand testing for deadly heart conditions
Thousands more people nationally – and hundreds in our region – could be screened for deadly inherited heart conditions at the John Radcliffe Hospital after it received a grant to expand a genetic testing service. The funding from the Miles Frost Fund and the British Heart Foundation (BHF) was announced at the John Radcliffe on … Read more
England world leaders in the use of Whole Genome Sequencing to diagnose TB
In a world-first, Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis, announced Public Health England today. This is the first time that WGS has been used as a diagnostic solution for managing a disease on this scale anywhere in the world. This builds on WGS based services for public … Read more
New trial for blindness rewrites the genetic code
Researchers have started a new gene therapy clinical trial to treat X-linked retinitis pigmentosa (XLRP), the most common cause of blindness in young people. Retinitis pigmentosa is currently untreatable and leads to a slow and irreversible loss of vision. On 16 March 2017, a 29-year-old British man became the first patient with X-linked retinitis pigmentosa … Read more
Genetic sequencing offers same-day TB testing
Researchers have for the first time shown that standard tuberculosis (TB) diagnostic tests can be replaced by a sub-24 hour genetic test applied to the TB bacteria in a patient’s sputum. It currently takes up to two months to obtain the full diagnostic information for a patient with TB, as the bacteria grow very slowly … Read more
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