Gene therapy to halt rare form of sight loss

  • 17 February 2020
  • From the section Health
Matthew having eye exam
Image caption Matthew Wood hopes the gene therapy will help him keep his remaining vision

A new gene therapy has been used to treat patients with a rare inherited eye disorder which causes blindness.

It's hoped the NHS treatment will halt sight loss and even improve vision.

Matthew Wood, 48, one of the first patients to receive the injection, told the BBC: "I value the remaining sight I have so if I can hold on to that it would be a big thing for me."

The treatment costs around £600,000 but NHS England has agreed a discounted price with the manufacturer Novartis.

Luxturna (voretigene neparvovec), has been approved by The National Institute for Health and Care Excellence (NICE), which estimates that just under 90 people in England will be eligible for the treatment.

Read full article Gene therapy to halt rare form of sight loss

AI 'outperforms' doctors diagnosing breast cancer

  • 2 January 2020
  • From the section Health
Doctor holds up a mammogram in front of an x-ray illuminator Image copyright Getty Images
Image caption AI was as accurate as two doctors working together

Artificial intelligence is more accurate than doctors in diagnosing breast cancer from mammograms, a study in the journal Nature suggests.

An international team, including researchers from Google Health and Imperial College London, designed and trained a computer model on X-ray images from nearly 29,000 women.

Read full article AI 'outperforms' doctors diagnosing breast cancer

'Check your cholesterol from age 25'

  • 4 December 2019
  • From the section Health
red blood cells and one heart-shaped one Image copyright BlackJack3D/Getty

People should have their cholesterol level checked from their mid-20s, according to researchers.

They say it is possible to use the reading to calculate the lifetime risk of heart disease and stroke.

Read full article 'Check your cholesterol from age 25'

Huntington's disease: Woman who inherited gene sues NHS

  • 18 November 2019
  • From the section Health
An image of an unidentified pregnant woman in a hospital gown Image copyright Getty Images

A woman who was not informed that her father had a fatal, inherited brain disorder has told the High Court that she would have had an abortion if she'd known at the time of her pregnancy.

She is suing three NHS trusts saying they owed a duty of care to tell her about her dad's Huntington's disease.

Read full article Huntington's disease: Woman who inherited gene sues NHS

Genome sequencing 'revolution' in diagnosis of sick children

  • 10 June 2019
  • From the section Health
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Media captionKris Daly and Claire Cole say genome sequencing was "priceless" in helping identify Millie-Mae's rare form of epilepsy

Genome sequencing is set to revolutionise the diagnosis of rare childhood conditions, according to researchers in Cambridge.

All seriously ill children in England with an unexplained disorder will be eligible for genome analysis, which involves mapping a person's entire genetic code, from next year.

Read full article Genome sequencing 'revolution' in diagnosis of sick children

Cannabis meds: 'I risk criminal record to help my child'

  • 17 May 2019
  • From the section Health
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Media captionAnthony and Tannine travel to the Netherlands to obtain cannabis oil for their child

Anthony Clarry has had to get used to breaking the law. Once a month he smuggles two cannabis-based medicines into the UK for his five-year-old daughter Indie-Rose, who has a rare form of severe epilepsy.

Speaking minutes after clearing customs at Stansted Airport, he told the BBC: "Every time I come back from the Netherlands I am really anxious that they might stop me and then I risk a criminal record, and also having Indie's medicine taken away which would potentially put her life at risk."

Read full article Cannabis meds: 'I risk criminal record to help my child'

Organ donor law change named after Max and Keira

  • 26 February 2019
  • From the section Health
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Media caption"She's a hero" - Max, his parents and Keira's parents tell the story that gave the legislation its name

Plans to change the rules on organ donation consent in England have cleared the final hurdle in Parliament.

The legislation will be known as Max and Keira's Law after a boy who received a heart transplant and the girl who donated it.

Read full article Organ donor law change named after Max and Keira

Gene therapy first to 'halt' most common cause of blindness

  • 18 February 2019
  • From the section Health
Janet Osborne Image copyright Fergus Walsh
Image caption Janet Osborne hopes to continue gardening if her sight loss is halted

A woman from Oxford has become the first person in the world to have gene therapy to try to halt the most common form of blindness in the Western world.

Surgeons injected a synthetic gene into the back of Janet Osborne's eye in a bid to prevent more cells from dying.

Read full article Gene therapy first to 'halt' most common cause of blindness

First child given pioneering CAR-T cancer therapy

  • 31 January 2019
  • From the section Health
Eleven year old Yuvan, with parents Vinay and Sapna Image copyright GOSH
Image caption Yuvan, 11, with parents, Vinay and Sapna

An 11-year-old has become the first NHS patient to receive a therapy that uses the body's own cells to fight cancer.

Yuvan Thakkar, who has a form of leukaemia, was given the personalised treatment at Great Ormond Street Hospital (GOSH), in London, after conventional cancer treatments failed.

Read full article First child given pioneering CAR-T cancer therapy

'Virtual tumour' new way to see cancer

  • 26 December 2018
  • From the section Health
avatar and VR tumour
Image caption An avatar of a scientist exploring a 3D tumour in a virtual reality laboratory

Scientists in Cambridge have built a virtual reality (VR) 3D model of cancer, providing a new way to look at the disease.

The tumour sample, taken from a patient, can be studied in detail and from all angles, with each individual cell mapped.

Read full article 'Virtual tumour' new way to see cancer