An injectable cure for inherited heart muscle conditions that can kill young people in the prime of their lives could be available within a few years, after an international team of researchers were announced as the winners of the British Heart Foundation’s (BHF) Big Beat Challenge. The BHF award – at £30m, one of the … Read more
News for Genomic Medicine
Three new Blood and Transplant Research Units created in Oxford
The NIHR has awarded three new Blood and Transplant Research Units (BTRUs) to the University of Oxford. The £20m programme, co-funded by the National Institute for Health and Care Research (NIHR) and NHS Blood and Transplant (NHSBT), are aimed at providing new technologies, techniques or insights that will benefit donation, transfusion, and transplantation, and that … Read more
First UK pilot study of newborn screening for spinal muscular atrophy launched
University of Oxford researchers have launched a pilot study to conduct routine testing of newborn babies for spinal muscular atrophy (SMA) for the first time. Every five days a baby is born in the UK with SMA. If treatments are delivered at birth, these newborns have the best chance of living long and healthy lives. … Read more
BRC eye surgeons outline latest sight restoration approaches
Ophthalmologists from the University of Oxford have outlined the main sight restoration technologies currently being explored by leading eye surgeons. In an article published in Nature Biomedical Engineering, the authors, who are supported by the NIHR Oxford BRC, identified the major techniques being developed to halt or reverse sight loss as: optogenetics, retinal cell therapy … Read more
Whole genome sequencing improves diagnosis of rare diseases, study says
A world-first scientific study has shown that whole genome sequencing (WGS) can uncover new diagnoses for people across the broadest range of rare diseases investigated to date and could deliver enormous benefits across the NHS. The pilot study of rare undiagnosed diseases, published today in the New England Journal of Medicine, involved analysing the genes … Read more
Genetic study highlights links between IBS and mental health disorders
Research funded and supported by the NIHR has revealed that symptoms of irritable bowel syndrome (IBS) may be caused by the same biological processes as mental health conditions such as anxiety. IBS is a common condition worldwide, affecting around 1 in 10 people. The condition causes a wide range of symptoms including abdominal pain, bloating … Read more
Study uncovers gene that doubles risk of death from COVID-19
University of Oxford researchers have identified the gene responsible for doubling the risk of respiratory failure from COVID-19. Sixty percent of people with South Asian ancestry carry the high-risk genetic signal, which could partly explain the excess deaths seen in some UK communities, and the impact of COVID-19 in South Asia. Previous work had already identified … Read more
Blog: Identifying policy implications of personal genetic health information
Oxford BRC researcher, Dr Liz Ormondroyd, explains how she has been working with fellow academics and the UK Parliamentary Office of Science and Technology to identify policy implications of genomic health information. Genetics and genomics are increasingly in the news. People can buy genetic tests on the internet, without providing a medical reason or involving … Read more
Genetic breakthrough to target care for deadly heart condition
University of Oxford researchers have discovered a new type of genetic change in the DNA of people with the inherited heart condition hypertrophic cardiomyopathy, the leading cause of sudden cardiac death in young people. The findings, in a paper published in Nature Genetics, could transform the diagnosis and treatment of the disease, a silent killer amongst … Read more
Ancient gene mutation found to cause rare hereditary condition
UK scientists have found that a 7,000-year-old genetic mutation is responsible for a rare form of hereditary motor neuropathy (HMN). In a paper, published in the journal Brain, geneticists and clinicians from the University of Oxford and University College London who led the international study said they had found that the novel disease gene VWA1 … Read more
Eight BRC projects get RCF funding
Eight Oxford BRC proposals, many covering a number of themes, have been awarded NIHR Research Capability Funding (RCF) funding to take forward key areas of research. The selected projects that will be supported include: Developing a research centre devoted to urgent and acute care The creation of a state-of-the-art imaging centre; and of a new … Read more
Gene therapy shows promise in tackling common cause of childhood blindness
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
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