A study by University of Oxford researchers has uncovered the genetic signals that cause ankylosing spondylitis, a common form of spinal arthritis. The results of the study, published in the journal Cell Genomics, offer new hope to patients and their families, as they pave the way for the ... READ MORE
News for Genomic Medicine
An open book? New genetic mutation linked to rare conditions
Researchers have discovered that a rare type of genetic variant can be responsible for two well-known skeletal disorders. Whereas many genetic conditions are caused by structural variations that involve deletions, insertions or duplications of segments of DNA, the scientists found that the ... READ MORE
National guidelines produced on use of genomics in treatment of IBD
National guidelines have been developed for clinicians on the use of genomics to diagnose and care for patients with monogenic inflammatory bowel disease (IBD), a group of intestinal disorders caused by variations in a single gene. The new guidelines, unveiled in an article in the Lancet ... READ MORE
Oxford researcher investigates genetic mechanisms of rare forms of asthma
An Oxford researcher has been awarded funding to expand her cutting edge research into the genetic mechanisms of rare and severe forms of asthma. Dr Anastasia Fries, NIHR Academic Clinical Fellow in Respiratory Medicine, was awarded a three-year MRC Clinical Research Training Fellowship worth ... READ MORE
Oxford receives major BHF award to research cure for inherited heart diseases
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 ... READ MORE
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 ... 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 ... 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 ... 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 ... 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 ... 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, ... 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 ... 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 ... 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 ... 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 careThe ... 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 ... 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 ... 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 ... 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 ... 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 ... READ MORE