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News Category: Genomic Medicine

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

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

Ahead of World Cancer Day on February 4, 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 … Read more

Funding boost for genetics centre

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

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

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

  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

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

Faster TB results from BRC-backed research

Whole Genome Sequencing is a faster, cheaper and more effective way of diagnosing tuberculosis, according to a new study published in the journal Lancet Respiratory Medicine. Dr Louise Pankhurst of the University of Oxford and a team of worldwide collaborators including Public Health England utilised innovative DNA technology to diagnose cases of tuberculosis (TB) up … Read more

New test offers breakthrough in IVF success rates

One of the most important factors influencing the success of IVF treatment is the health of the embryo selected for transfer to the womb. Approximately 85 per cent of all embryos transferred do not ultimately go on to produce a baby. In recent years the importance of counting chromosomes in the cells of embryos was … Read more

100,000 Genomes Project video online

A talk on a pioneering genetics project being led in the Thames Valley by Oxford University Hospitals NHS Trust is now available to view online. Director of the Oxford NHS Genomic Medicine Centre and Associate Professor of Molecular Diagnostics for the University of Oxford’s Department of Oncology Anna Schuh gave the talk on the national … Read more

Blog: 100,000 Genomes Project will help people for generations to come

By Dr Angela Hamblin, Molecular Diagnostic Research Fellow at the NIHR Oxford Biomedical Research Centre The wait is over! The Oxford NHS Genomic Medicine Centre is now the first centre in the country open to recruit patients with cancer into Genomics England’s 100,000 Genomes Project. This follows on from the successful start of enrolment of patients … Read more

Recruitment begins on major genetics project

A project to unravel the genetic changes underlying rare disease and cancers of more than 1,200 patients and their families who are looked after by Oxford University Hospitals NHS Trust (OUHT) has started. The project will aid research, improve diagnosis and ultimately clinical outcomes so NHS patients can receive care based on cutting edge scientific … Read more

New TB test to get sufferers on right drugs sooner

Tuberculosis sufferers will be able get drug treatment sooner thanks to a new whole genome sequencing technique to determine for the first time which drugs to give sufferers, researchers in Oxford have reported. University of Oxford researchers at the John Radcliffe Hospital have developed a genetic test – details of which are published online today … Read more

Project brings Whole Genome Sequencing into the clinic

More than 10 years after the completion of the Human Genome Project doctors are a step closer to using whole genome sequencing to diagnose and treat patients with genetic diseases. This follows a study by researchers from the University of Oxford and the DNA sequencing company Illumina. Results from this ‘WGS500’ study, published in Nature … Read more

Gene sequencing test for cancer patients on the NHS

The first multi-gene DNA sequencing test that can help predict cancer patients’ responses to treatment has been launched in the National Health Service (NHS), thanks to a partnership between scientists at the University of Oxford and Oxford University Hospitals NHS Trust. The test uses the latest DNA sequencing techniques to detect mutations across 46 genes … Read more

New understanding of craniosynostosis will help families and treatment centres

RESEARCHERS in Oxford have discovered two new genetic causes of craniosynostosis – a rare bone condition that can inhibit brain growth in children. The work will give affected families much greater understanding of the condition and inform patient treatment plans. Andrew Wilkie, Nuffield Professor of Pathology at Oxford University and honorary consultant at Oxford University … Read more

TB’s genetic “family tree” may hold the key to tackling outbreaks quickly and effectively

NEW genetic sequencing techniques can map the “family tree” of a Tuberculosis (TB) outbreak allowing the spread of disease to be tackled quickly and effectively. Researchers, led by the NIHR Oxford Biomedical Research Centre, the Health Protection Agency in Birmingham and the Wellcome Trust Sanger Institute in Cambridge, have pioneered the whole genome sequencing (WGS) … Read more

Gene therapy trial begins for blindness caused by choroideraemia

Professor Robert MacLaren from the University of Oxford and Professor Miguel Seabra from Imperial College London are undertaking a clinical trial using gene therapy to treat a disease that causes blindness known as choroideraemia. This condition is currently incurable and affects thousands of people worldwide. This is the world’s first clinical trial for this disease … Read more

Man treated in Oxford for blindness with gene therapy

Researchers in Oxford have treated a man with an advanced gene therapy technique to prevent him from losing his sight. It is the first time that anyone has tried to correct a genetic defect in the light-sensing cells that line the back of the eye. The president of the Academy of Medical Sciences said the widespread … Read more

Heart disease linked to a few rogue genes

Heart disease is linked to just a few rogue genes as well as lifestyle choices, landmark research into Britain’s biggest killer has found. The 18 genes that raise the risk of cardiac problems, from heart attacks to hardening of the arteries, have been pinpointed in three studies involving hundreds of scientists worldwide. The breakthrough opens … Read more