Blind patients see family and colors again after CRISPR therapy

Blindness breakthrough as two patients robbed of their perfect vision as children are able to see their family and make out colors again thanks to pioneering gene-editing therapy

  • Americans Michael Kalberer, 43, en Carlene Knight, 54, regained some vision
  • Enough to make out silhouettes and colors, which they described as ‘amazing
  • Earlier this year they were among seven patients to have their DNA modified
  • Blind patients have been able to recognise family members for the first time in years after volunteering for a pioneering gene editing experiment.

    Michael Kalberer, 43, en Carlene Knight, 54, albei ly aan 'n ongeneeslike oogsiekte wat hulle in volwassenheid van hul sig beroof het.

    Earlier this year they were among seven patients who allowed scientists to modify their DNA by injecting the gene-editing tool CRISPR into them.

    Terwyl hul visie nie ten volle herstel is nie, hulle kan kleure sien, navigeer gange en maak silhoeëtte uit.

    Mnr Kalberer, van Long Island, het onthul dat hy familielede op die dansvloer van sy neef se troue kon herken, iets wat vir jare onmoontlik was.

    He told National Public Radio: ‘I could see the DJ’s strobe lights change color and identify them to my cousins who were dancing with me. That was a very, very fun joyous moment.

    Ms Knight, van Portland, Oregon, said she could finally see color clearly for the first time since she was a child, which she described as ‘just amazing’. To celebrate, she had dyed her hair her favorite color — green.

    Die paar het aangemeld om die eksperimentele behandeling by die Oregon Health te ontvang & Wetenskap Universiteit in Mei.

    Dit was die eerste keer dat CRISPR - wat belofte getoon het in die behandeling van toestande soos sekelselsiekte - ooit gebruik is om 'n persoon se gene in hul liggaam te wysig.

    Michael Kalberer, 43, van Long Island, revealed he was able to recognise relatives on the dancefloor of his cousin's wedding, iets wat vir jare onmoontlik was

    Michael Kalberer, 43, van Long Island, het onthul dat hy familielede op die dansvloer van sy neef se troue kon herken, iets wat vir jare onmoontlik was

    Carlene Knight, 54, van Portland, Oregon, said she could finally see color for the first time since she was a child, which she described as 'just amazing'. To celebrate, she had dyed her hair her favorite color — green

    Carlene Knight, 54, van Portland, Oregon, said she could finally see color for the first time since she was a child, which she described as ‘just amazing’. To celebrate, she had dyed her hair her favorite color — green

    Both Kalberer and Knight were both born with a rare genetic eye disorder called Leber congenital amaurosis (LCA).

    Sufferers have rods and conescells that detect dim and bright light, onderskeidelik – in the retina that do not function properly.

    Some are blind at birth while others experience visual loss over time, which was the case for Kalberer and Knight.

    LCA is estimated to affect between one and two babies out of every 100,000 geboortes, according to the National Organization for Rare Disorders.

    WHAT IS GENE EDITING?

    Genome editing enables scientists to make changes to DNA, leading to changes in physical traits.

    Scientists use different technologies to do this.

    These technologies act like scissors, cutting the DNA at a specific spot.

    Then scientists can remove, add, or replace the DNA where it was cut.

    The first genome editing technologies were developed in the late 1900s.

    Meer onlangs, a new genome editing tool called CRISPR, invented in 2009, has made it easier than ever to edit DNA.

    Bron: US National Human Genome Research Institute (NHGRI)

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    Both patients have a version of the disease caused by a defect in the gene CEP290, which regulates a protein that keeps the eye healthy.

    While CRISPR normally involves taking cells out of the body, editing them in the lab, and then infusing them back into patients — that’s not possible for diseases like LCA.

    This is because retinal cells are too fragile to be removed, edit and reinserted, NPR berig.

    In the trial, three tiny incisions were made in Knight’s left eye and Kalberer’s right eye to insert billions of benign virus particles carrying the CRISPR technology.

    CRISPR then cut out the genetic mutation of the cells that affect the rods and cones, which spurred the body to produce properly working genes.

    Scientists only operated on one eye to begin with, but plan to do the other eye if the patients continue to improve.

    Not all patients in the trial saw results, for reasons which are still unknown.

    And in those such as Knight and Kalberer, who did see benefit, their vision is still far from perfect.

    But the results are so promising that the researchers have been given the go-ahead to move onto a larger group of patients.

    Kalberer said the ability to make out shapes and light, and see better through his peripheral, had restored some normality to his life, including being able to eat out.

    Carlene Knight (op die foto), 54, van Portland, Oregon, is one of two patients with a rare genetic eye disorder called Leber congenital amaurosis (LCA) undergoing a new CRISPR study that will see genes edited while the DNA is inside the body

    Carlene Knight (op die foto), 54, van Portland, Oregon, is one of two patients with a rare genetic eye disorder called Leber congenital amaurosis (LCA) undergoing a new CRISPR study that will see genes edited while the DNA is inside the body

    Michael Kalberer, 43 (op die foto), van Long Island, New York, is the other patient undergoing the study in the hopes of restoring his vision

    Michael Kalberer, 43 (op die foto), van Long Island, New York, is the other patient undergoing the study in the hopes of restoring his vision

    While it's too soon to say if the technology is working yet, the team hopes it will either prevent further vision loss or even restore vision. Op die foto: Knight

    While it’s too soon to say if the technology is working yet, the team hopes it will either prevent further vision loss or even restore vision. Op die foto: Knight

    Hy het bygevoeg: ‘It has enabled me to navigate a plate of food and stab food a little bit easier.

    ‘If I look down at a plate of food and there’s spoon or utensil in it I can see the edge of the utensil on the outside of the bowl or plate.

    ‘So those changes are very, very significant to me.

    Tot sy verbasing, he can also now see colors for the first time in years. He noticed it about a month after the procedure when a red car drove past.

    Mr Kalberer has been able to enjoy the simple pleasures in life, such as watching the sun set with friends.

    Ms Knight is also loving her regained ability to make out colors, telling NPR: ‘I’ve always loved colors.

    ‘Since I was a kid it’s one of those things I could enjoy with just a small amount of vision.

    ‘But now I realize how much brighter they were as a kid because I can see them a lot more brilliantly now. maar kon wonderbaarlik haar pad huis toe vind deur die regte bushaltes te onthou’