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Research Theme

Genomic Medicine

You are here: Home > News listings for Genomic Medicine

News for Genomic Medicine

Three new Blood and Transplant Research Units created in Oxford

18 May 2022 · Listed under Clinical Informatics and Big Data, Genomic Medicine, Haematology and Stem Cells

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

16 March 2022 · Listed under Genomic Medicine, Neurological Conditions

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

3 February 2022 · Listed under Genomic Medicine, Surgical Innovation and Evaluation

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

11 November 2021 · Listed under Genomic Medicine

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

10 November 2021 · Listed under Clinical Informatics and Big Data, Gastroenterology and Mucosal Immunity, Genomic Medicine

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

5 November 2021 · Listed under COVID-19, Genomic Medicine

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

4 June 2021 · Listed under Genomic Medicine

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

25 January 2021 · Listed under Cardiovascular, Genomic Medicine

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

18 January 2021 · Listed under Genomic Medicine

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

7 September 2020 · Listed under Cardiovascular, Clinical Informatics and Big Data, Diabetes and Metabolism, Gastroenterology and Mucosal Immunity, Genomic Medicine, Haematology and Stem Cells, Imaging, Molecular Diagnostics, Multi-Modal Cancer Therapies, Multimorbidity and Long-Term Conditions, Neurological Conditions, Stroke and Vascular Dementia, Surgical Innovation and Evaluation, Technology and Digital Health

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

26 February 2020 · Listed under Genomic Medicine, Surgical Innovation and Evaluation

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

4 March 2019 · Listed under Genomic Medicine, Musculoskeletal

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

1 March 2019 · Listed under Genomic Medicine

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

18 February 2019 · Listed under Genomic Medicine, Surgical Innovation and Evaluation

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

13 December 2018 · Listed under Clinical Informatics and Big Data, Genomic Medicine

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

30 May 2018 · Listed under Genomic Medicine, Multi-Modal Cancer Therapies

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

26 February 2018 · Listed under Cardiovascular, Genomic Medicine

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

30 March 2017 · Listed under Antimicrobial Resistance and Modernising Microbiology, Genomic Medicine

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

20 March 2017 · Listed under Antimicrobial Resistance and Modernising Microbiology, Genomic Medicine

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

15 March 2017 · Listed under Antimicrobial Resistance and Modernising Microbiology, Genomic Medicine

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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