Radical new gene therapy restores sight to patients with rare eye condition - BBC News

00:03:18
https://www.youtube.com/watch?v=v8NLQEX3ViM

Resumen

TLDRThe report by Fergus Walsh on BBC News highlights a revolutionary gene therapy called Luxturna which is being used for patients with a rare inherited eye condition that causes severe tunnel vision. The therapy has shown unexpected benefits by not only halting the further loss of vision but also significantly improving eyesight in patients like Jake and Matthew who were losing their sight due to this condition. This involves an expensive treatment that injects working copies of the RPE 65 gene into the retina, encapsulated in a harmless virus. The NHS, collaborating with the manufacturer Novartis, has arranged a discounted price for the therapy. The therapy provides hope for those with similar conditions, especially children, as it might prevent permanent sight damage.

Para llevar

  • 🔬 Innovative gene therapy called Luxturna is helping patients with inherited eye conditions.
  • 💰 The therapy, though costly, is covered by NHS at a discounted rate.
  • 👁️ Jake, a patient, experienced improved peripheral vision and ability to see facial features.
  • 🔬 The therapy involves injecting a functional gene into the retina using a virus.
  • 👨‍👩‍👧 Children are likely to benefit the most as therapy can prevent permanent sight damage.
  • 🔄 Patients like Matthew report increased independence due to regained vision abilities.
  • 🏥 Treatment offered in specialized hospitals like Moorfield's Eye Hospital in London.
  • 🔄 Therapy marks transformative change offering hope to patients with rare conditions.
  • 💡 Experience slight visual improvement boosts patient confidence and daily life quality.
  • 🧬 Novartis, the manufacturer, collaborates with healthcare providers for treatment accessibility.

Cronología

  • 00:00:00 - 00:03:18

    Jake has been experiencing gradual loss of vision due to a rare inherited eye condition that causes tunnel vision. However, a new form of gene therapy has not only halted further vision loss but also improved his vision. The gene therapy involves injecting a working copy of a faulty gene, RPE65, into the retina. This process is hoped to stabilize and improve vision further for Jake and others with similar conditions.

Mapa mental

Mind Map

Preguntas frecuentes

  • What is the rare inherited eye condition mentioned?

    It is a condition that causes severe tunnel vision due to a faulty RPE 65 gene.

  • What is the name of the gene therapy used in the report?

    The gene therapy is called Luxturna.

  • How does the gene therapy work?

    The therapy delivers working copies of the faulty gene RPE 65 into the retina, encased in a harmless virus which helps production of the essential protein for healthy vision.

  • How much does the Luxturna treatment cost?

    The treatment costs £600,000, but the NHS has a discounted price agreement with the manufacturer.

  • Who can benefit the most from this therapy?

    Children and others with similar eye conditions may benefit the most, as it can halt sight loss before permanent damage occurs.

  • What changes did Jake experience after the therapy?

    Jake experienced improved peripheral vision and being able to see facial features.

  • What impact did the therapy have on Matthew from London?

    Matthew noticed improvements in independence and regained some vision enabling daily activities without assistance.

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Desplazamiento automático:
  • 00:00:00
    it's a rare inherited eye condition
  • 00:00:02
    which eventually causes severe
  • 00:00:04
    tunnel vision scientists have been using
  • 00:00:06
    a new form of gene therapy on patients
  • 00:00:09
    to try to halt further loss of sight but
  • 00:00:12
    they've been astonished to find that it
  • 00:00:13
    has also
  • 00:00:14
    improved their vision as well here's our
  • 00:00:16
    medical editor fergus walsh and just a
  • 00:00:18
    warning
  • 00:00:19
    his report does include images of an
  • 00:00:22
    operation
  • 00:00:25
    jake has been gradually losing his sight
  • 00:00:27
    since birth
  • 00:00:29
    but no longer thanks to a groundbreaking
  • 00:00:32
    gene therapy
  • 00:00:33
    just being able to see facial features
  • 00:00:34
    on my own faces is something that
  • 00:00:36
    i never used to be able to do jake from
  • 00:00:39
    county durham has a rare inherited
  • 00:00:41
    condition
  • 00:00:42
    which means his central vision is
  • 00:00:44
    largely a blur
  • 00:00:46
    since his right eye was treated a year
  • 00:00:48
    ago his peripheral vision
  • 00:00:50
    has improved i've been the best place
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    i've probably been in 20
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    24 years of life last year for a lot of
  • 00:00:56
    people was a
  • 00:00:57
    dark and a miserable year but for me it
  • 00:00:59
    was probably easily the
  • 00:01:00
    best year of my life after a year's
  • 00:01:04
    delay due to covid
  • 00:01:05
    jake has now had his other eye treated
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    at moorfield's eye hospital
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    in london which it's hoped may further
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    stabilize
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    and perhaps improve his vision the
  • 00:01:16
    one-off
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    gene therapy called lux turner is
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    delivered via
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    injection it costs 600 000 pounds
  • 00:01:25
    but the nhs has agreed a discounted
  • 00:01:28
    price
  • 00:01:28
    with the manufacturer nevartis the
  • 00:01:31
    injection delivers
  • 00:01:32
    working copies of a faulty gene rpe
  • 00:01:35
    65 into the retina at the back of the
  • 00:01:39
    eye the dna
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    is encased in a harmless virus which
  • 00:01:43
    breaks into the retinal cells
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    once inside the nucleus the replacement
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    gene
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    kick starts production of the rpe 65
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    protein
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    essential for healthy vision this is
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    really transformational
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    it provides an opportunity provides hope
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    for people
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    not only with this specific condition
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    but people with other similar conditions
  • 00:02:04
    hope that they can protect their site in
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    the long term i keep noticing subtle
  • 00:02:08
    improvements i noticed one
  • 00:02:09
    today coming into this park i noticed
  • 00:02:11
    that there are railings
  • 00:02:12
    above the entrance to the gate matthew
  • 00:02:15
    from london has the same
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    rare inherited condition and has had one
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    eye treated
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    the second operation is next month age
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    48
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    his vision had already deteriorated much
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    further than jake's
  • 00:02:29
    i lost my central vision about 10 years
  • 00:02:31
    ago
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    and that had a really severe impact on
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    how i live and who i am
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    if the treatment means that
  • 00:02:40
    if it puts off another decline like that
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    then that's that's going to be
  • 00:02:43
    amazing matthew's wife has noticed he is
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    more independent
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    he doesn't have to ask me every every
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    little thing is this on the right
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    setting
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    is that you know the washing machine the
  • 00:02:55
    coffee machine
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    you know those things that are just
  • 00:02:58
    everyday people take for granted
  • 00:03:00
    matthew can now do himself around a
  • 00:03:03
    dozen people in the uk
  • 00:03:04
    have received the gene therapy including
  • 00:03:07
    several
  • 00:03:08
    children who stand to benefit most as it
  • 00:03:11
    may
  • 00:03:11
    halt their sight loss before permanent
  • 00:03:14
    damage is done
  • 00:03:16
    fergus walsh bbc news
Etiquetas
  • Luxturna
  • gene therapy
  • inherited eye condition
  • RPE 65 gene
  • tunnel vision
  • NHS
  • novartis
  • vision improvement
  • retina
  • sight loss prevention