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Research Theme

Genomic Medicine

You are here: Home > News listings for Genomic Medicine

News for Genomic Medicine

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

Public Health Minister Visits Oxford Cancer Hospital ahead of World Cancer Day

4 February 2017 · Listed under Genomic Medicine, Multi-Modal Cancer Therapies

Ahead of World Cancer Day on February, Public Health Minister Nicola Blackwood highlighted the importance of UK scientific research to beating cancer during a visit to the Churchill Hospital. The Public Health and Innovation Minister saw state-of-the-art clinical trials and facilities for new cancer treatments and patients, both supported by the NIHR Oxford Biomedical Research … Read more

Funding boost for genetics centre

8 December 2016 · Listed under Genomic Medicine

A major University of Oxford genetics research centre that supports Oxford BRC research is to share £118m of new funding. Global medical research funding charity Wellcome has announced funding for The Wellcome Centre for Human Genetics. The aim of the centre is to advance understanding of health and disease, and span fundamental and social sciences, … Read more

Nanopore genetics breakthrough supported by Oxford BRC

2 December 2016 · Listed under Genomic Medicine

Oxford University’s Wellcome Trust Centre for Human Genetics (WTCHG) and the leading genome analytics company Genomics plc has announced the first sequencing and analysis of multiple human genomes using nanopore technology. The announcement, made on Thursday, December 1, at the Oxford Nanopore Community Meeting in New York City, marks a major breakthrough in sequencing technology … Read more

How baby’s genes influence birth weight and later life disease

28 September 2016 · Listed under Genomic Medicine

New research finds genetic differences that help to explain why some babies are born bigger or smaller than others. It also reveals how genetic differences provide an important link between an individual’s early growth and their chances of developing conditions such as type 2 diabetes or heart disease in later life. The large-scale study, published … Read more

Parents back genetics project at one year milestone

25 August 2016 · Listed under Genomic Medicine

  Parents who want to understand the cause of their infant daughter’s immune deficiency are among more than 1,000 people who participated in the first full year of a ground-breaking NHS genetics project in Oxford. Kevin and Corinne Kirk hope a simple blood sample from daughter Evie, two, could help unlock the mysteries of her … Read more

Gene sequencing offers way to beat global spread of gonorrhoea

11 July 2016 · Listed under Genomic Medicine, Other News

With drug-resistant strains of sexually-transmitted infection gonorrhoeae increasing, scientists from Brighton, Oxford University and Public Health England have found that genetic sequencing can track the spread of infection. They show coordinated national and international strategies are required to stop drug-resistance spreading further. Their study, funded by the NIHR Oxford Biomedical Research Centre (BRC) and the NIHR Healthcare-Associated … Read more

Gene therapy shows long-term benefit for treating rare blindness

3 May 2016 · Listed under Genomic Medicine, Surgical Innovation and Evaluation

Pioneering gene therapy has restored some vision to patients with a rare form of genetic blindness for as long as four years, raising hopes it could be used to cure common causes of vision loss, new University of Oxford research published today shows. A technique which involves injecting a virus into the eye to deliver … Read more

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