The blind man who was given the gift of sight by gene therapy

A pioneering gene therapy trial has helped a blind man to see in a breakthrough that brings hope to millions affected by eye diseases. British scientists have claimed a world first for the revolutionary treatment, which involved a single injection into the retina at the back of the eye.

Steven Howarth, 18, from Bolton, who has a rare inherited eye disorder which has left him with extremely poor vision and completely unable to see in the dark, improved sufficiently after the treatment to be able to navigate a "maze" in conditions similar to street lighting at night.

Experts hailed the research, supported by £1m from the Department of Health, as a major advance in the treatment of blindness and predicted it would lead to new developments in gene therapy for other conditions.

Dawn Primarolo, the Public Health minister, said: "This is a major achievement for British science and the NHS and shows we truly are at the forefront of innovation."



The injection was given into the back of Mr Howarth's worse- affected eye, which had almost no vision, especially in low light. A video of him with his "good" eye covered, taken before the treatment was carried out, shows him trying to find his way through a maze of three doorways and repeatedly bumping into walls and losing his sense of direction. Six months after receiving the injection, a repeat video shows an astonishing improvement. He can be seen negotiating a similar maze in low light in seconds, without mishap.

Mr Howarth is one of the first three patients to be treated with the experimental therapy by specialists at University College London (UCL) and Moorfields Eye Hospital. The other two patients, aged 17 and 23, suffered no ill effects but did not report any improvement. The results are published today in the New England Journal of Medicine.

Results of a similar trial by a rival US group at the University of Pennsylvania, which began eight months after the British trial, are also reported in the journal today. Three patients, one aged 19 and two aged 26, were injected and are reported to have improved vision as measured by standard eye tests. One showed an improved ability to navigate an obstacle course. However, one of the American patients developed a hole in the retina, thought to be due to the surgery, though this did not affect their sight.

Robin Ali, professor of human molecular genetics at UCL Institute of Ophthalmology, who led the British study, said: "We are thrilled. We started with the most difficult cases – with late-stage disease, using a low dose and in the worst affected eye – because we were being cautious. As we move to younger patients with an increased dose we expect better results."

The technique has already been shown to work in animals where results were better in those with less-advanced disease, he said. It is now being tried in nine younger patients, aged eight to 16, and the researchers hope for improved results.

"It is too early to say anything but we anticipate further success," Professor Ali said.

Mr Howarth, a student and a guitarist, said he had been nervous and excited before the treatment. He said his eye "felt like sandpaper" after, and took over a week to return to normal.

"Now, when it's getting dark or it's badly lit, my sight is definitely better. It's a small change – but it makes a big difference to me. Before the operation, I used to rush home from college when it started to get dark because I was worried about getting around. Now I can take my time and stay later if I need to, for band rehearsals and things like that."

Mr Howarth and the two other patients were born with Leber's congenital amaurosis, an inherited degenerative disorder which leads to progressive loss of sight caused by a fault in a single gene, RPE65. The operation, carried out by James Bainbridge, a consultant ophthalmologist at Moorfields Eye Hospital, involved injecting normal versions of the defective gene into the back of the eye, beneath the retina.

Extreme surgical precision was required to inject the solution containing the normal genes, gently lifting the retina and causing a temporary detachment. One slip could have torn the retina and destroyed the patient's remaining sight.

Professor Ali said the treatment had not merely halted the degeneration but had improved vision. "This is a very significant milestone. This trial establishes proof of principle of gene therapy for inherited retinal disease and paves the way for development of gene therapy approaches in a broad range of eye disorders," he said.

It is only the second time gene therapy has been proved successful in humans, after trials showed it was effective in the rare inherited disorder called SCID (severe combined immune deficiency) which leaves babies without a functioning immune system so they have to live in a bubble to protect them from infection. This advance could open the way to treatment in other conditions, including blood and immune disorders, Professor Ali said.

Len Seymour, professor of gene therapies at Oxford University and president of the British Society for Gene Therapy, said: "Carefully designed studies such as this demonstrate the remarkable power of gene therapy to correct the basis of many diseases. The encouragement this study will bring to patients and scientists alike should give increased confidence in applying similar approaches for treatment of a host of debilitating disorders, unleashing the prospect of major advances through genetic medicine."

News
Russell Brand was in typically combative form during his promotional interview with Newsnight's Evan Davis
peopleReports that Brand could stand for Mayor on an 'anti-politics' ticket
News
The clocks go forward an hour at 1am on Sunday 30 March
news
Arts and Entertainment
The Doctor finds himself in a forest version of London in Doctor Who episode 'In the Forest of the Night'
TVReview: Is the Doctor ever going stop frowning? Apparently not.
News
Voluminous silk drawers were worn by Queen Victoria
newsThe silk underwear is part of a growing trade in celebrity smalls
PROMOTED VIDEO
Life and Style
ebooksA superb mix of recipes serving up the freshest of local produce in a delicious range of styles
Life and Style
ebooksFrom the lifespan of a slug to the distance to the Sun: answers to 500 questions from readers
Sport
footballMatch report: Real fight back to ruin Argentinian's debut
News
Candidates with surnames that start with an A have an electoral advantage
newsVoters are biased towards names with letters near start of alphabet
Arts and Entertainment
Isis with Lord Grantham (Hugh Bonneville)
TV
Arts and Entertainment
Jay James
TVReview: Performances were stale and cheesier than a chunk of Blue Stilton left out for a month
Latest stories from i100
Have you tried new the Independent Digital Edition apps?

ES Rentals

    Independent Dating
    and  

    By clicking 'Search' you
    are agreeing to our
    Terms of Use.

    iJobs Job Widget
    iJobs General

    Maths Teacher

    £110 - £200 per day: Randstad Education Leeds: Secondary Maths Teacher for spe...

    Business Analyst - Surrey - Permanent - Up to £50k DOE

    £40000 - £50000 Per Annum Excellent benefits: Clearwater People Solutions Ltd:...

    ***ASP.NET Developer - Cheshire - £35k - Permanent***

    £30000 - £35000 Per Annum Excellent benefits: Clearwater People Solutions Ltd:...

    ***Solutions Architect*** - Brighton - £40k - Permanent

    £35000 - £40000 Per Annum Excellent benefits: Clearwater People Solutions Ltd:...

    Day In a Page

    Wilko Johnson, now the bad news: musician splits with manager after police investigate assault claims

    Wilko Johnson, now the bad news

    Former Dr Feelgood splits with manager after police investigate assault claims
    Mark Udall: The Democrat Senator with a fight on his hands ahead of the US midterm elections

    Mark Udall: The Democrat Senator with a fight on his hands

    The Senator for Colorado is for gay rights, for abortion rights – and in the Republicans’ sights as they threaten to take control of the Senate next month
    New discoveries show more contact between far-flung prehistoric humans than had been thought

    New discoveries show more contact between far-flung prehistoric humans than had been thought

    Evidence found of contact between Easter Islanders and South America
    Cerys Matthews reveals how her uncle taped 150 interviews for a biography of Dylan Thomas

    Cerys Matthews on Dylan Thomas

    The singer reveals how her uncle taped 150 interviews for a biography of the famous Welsh poet
    DIY is not fun and we've finally realised this as a nation

    Homebase closures: 'DIY is not fun'

    Homebase has announced the closure of one in four of its stores. Nick Harding, who never did know his awl from his elbow, is glad to see the back of DIY
    The Battle of the Five Armies: Air New Zealand releases new Hobbit-inspired in-flight video

    Air New Zealand's wizard in-flight video

    The airline has released a new Hobbit-inspired clip dubbed "The most epic safety video ever made"
    Pumpkin spice is the flavour of the month - but can you stomach the sweetness?

    Pumpkin spice is the flavour of the month

    The combination of cinnamon, clove, nutmeg (and no actual pumpkin), now flavours everything from lattes to cream cheese in the US
    11 best sonic skincare brushes

    11 best sonic skincare brushes

    Forget the flannel - take skincare to the next level by using your favourite cleanser with a sonic facial brush
    Paul Scholes column: I'm not worried about Manchester United's defence - Chelsea test can be the making of Phil Jones and Marcos Rojo

    Paul Scholes column

    I'm not worried about Manchester United's defence - Chelsea test can be the making of Jones and Rojo
    Frank Warren: Boxing has its problems but in all my time I've never seen a crooked fight

    Frank Warren: Boxing has its problems but in all my time I've never seen a crooked fight

    While other sports are stalked by corruption, we are an easy target for the critics
    Jamie Roberts exclusive interview: 'I'm a man of my word – I'll stay in Paris'

    Jamie Roberts: 'I'm a man of my word – I'll stay in Paris'

    Wales centre says he’s not coming home but is looking to establish himself at Racing Métro
    How could three tourists have been battered within an inch of their lives by a burglar in a plush London hotel?

    A crime that reveals London's dark heart

    How could three tourists have been battered within an inch of their lives by a burglar in a plush London hotel?