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Carlin Knight’s vision was so bad that she couldn’t even walk around the call center where she works with her crutches.
“I got into the booths and really terrified those sitting in them,” says Knight, who was born with a rare genetic eye disease.
However, this has changed as a result of volunteering to complete the medical trial. Her vision has improved so much that she can make doors, walkways, see objects, and even see colors.
“It’s okay. I don’t fear people and I don’t have many wounds on my body,” Knight laughs.
Knight is one of seven patients with rare eye diseases who have voluntarily asked doctors to edit their DNA by injecting a revolutionary CRISPR gene-editing tool directly into cells in their bodies. Knight and another volunteer from the study gave exclusive interviews to NPR about their experiences.
This is the first time scientists have worked with CRISPR in this way. Previous experiments removed cells from patients’ bodies, conditioned them in a laboratory, and then returned the treated cells to patients.
On Wednesday, researchers revealed the first evidence that this approach works — improving vision, at least in some patients, known as: libre fungior LCA, Severe form of vision loss.
Dr. says. Mark Benessy, Professor of ophthalmology at the Casey Eye Institute at Oregon Health & Science University. Present results in a International Symposium on Retinal Degeneration V Nashville, Tenn.
Benesse warned that more patients need treatment and longer monitoring to make sure access is safe and to what extent it can help patients. However, the current results are so promising that the researchers moved to another group of patients.
Night vision is clearer and clearer than the experimental treatment. Instead of blindly searching for things, she can easily find them.
Recently, for example, when she dropped a fork on the kitchen floor, she said, “I bent down to pick it up, and I didn’t know where it was, and I saw it on the floor. It’s very good.”
Colors are also brighter and more vibrant.
“I have always loved colours. From an early age, this was one of the things that I could only enjoy with a small gaze. But now I realize how clear they were in childhood, because now I can see them more brilliantly.” “An amazing thing.”
Knight, 55, who lives outside of Portland, Oregon, dyed her hair her favorite color, green, to celebrate.
“It’s fun to watch,” he says with a laugh.
LCA is caused by a genetic mutation that disrupts important cells in the retina. Patients have progressive vision loss from birth, which usually makes them legally blind. The treatment is a far cry from treating patients in clinical trials, but some of the observed changes are large enough to have a measurable impact on their daily lives.
Eye block and Sunnah
Another volunteer who took part in the experiment, Michael Kalberer, can now also see colors for the first time in years. Notice this process about a month later, when a red car passed. However, the most exciting moment happened on the dance floor at his cousin’s wedding.
“I saw the DJ’s bright lights change color, and I was introduced to them by my cousins who were dancing with me,” Calberer says. “It was a really fun happy moment.”
Kalberer, 43, who lives on Long Island, is also better able to recognize shapes and light and has more peripheral vision, facilitating simple tasks like eating out at restaurants.
“It allowed me to move around on a plate and eat a little easier. If I look at my plate and find a spoon or saucepan inside, I see the sides of the pot or plate are outside the bowl,” says Calberer. “So these changes are very important to me.”
He could even see the sunset at last again. He remembers seeing someone for the first time after treatment. He came home after dinner with a friend when he saw pink in the sky.
She says, “Yeah, you see the sunset. That’s the sunset. And we were both smiling at each other,” Kalbearer says. “It was a great moment.”
At his cousin’s wedding, Calberer saw colorful lights on the dance floor. “It was really a happy, fun moment,” he says.
CRISPR It has already shown promise in treating devastating blood disorders such as sickle cell disease and beta thalassemia. Doctors try to use it to treat cancer. However, these experiments involve removing cells from the body, modifying them in the laboratory, and returning them to patients. In diseases such as LCA, this is impossible because the cells cannot be removed from the retina and then reinserted back into the eye.
Thus, the doctors genetically modified the harmless virus to transpose the CRISPR gene editor and injected billions of the modified viruses into the retina of Knight’s left eye and Calberer’s right eye, as well as into the eyes of five other patients. If something goes wrong, the operation is performed on only one eye. Doctors hope that the patient’s second eye will be treated after the research.
Once CRISPR entered retinal cells, it was expected to eradicate the genetic mutation that caused the disease, reactivate dormant cells, and restore vision.
“We’re excited about it,” he says. Dr. Eric PearceD., director of the Massachusetts Department of Eye and Ear Genomics and Professor of Ophthalmology at Harvard Medical School, who is helping run an experiment to test the approach.
“We’re excited to see early signs of efficacy because it means the genetic modifications are working. This is the first time we’re getting evidence that genetic modifications work in a person and improve – in this case – their visual function,” says Pierce.
This procedure was not successful in all patients who were followed for three to nine months. The reason it didn’t work might be because his dose was too low or maybe because his eyesight was too damaged.
Eye block and Sunnah
But Calberer, who got the lowest dose, and one of the volunteers, who received the higher dose, started reporting improvement about four to six weeks after the procedure. Knight and another patient who received higher doses improved so much that they showed improvement in a series of tests that included navigating the maze. It’s too early to talk about the other two.
No patient has achieved normal vision – far from it. However, according to scientists, improvements are already affecting patients. No significant side effects have been reported.
Many other patients will need treatment and prolonged monitoring to make sure the treatment is safe and to know how much it can help.
The researchers started giving a higher dose that might work best, and they plan to eventually begin treating children with the best chance of benefit.
They are also optimistic that the vision of patients treated so far may improve over time.
“When you improve retinal function, sometimes there is a delay in the brain’s ability to recognize and use that vision,” says Benessy. “It takes time to learn to use this improved vision.”
The findings could open the door to using the same approach to treat other diseases where doctors are unable to remove cells from the body, including brain disorders such as Huntington’s disease and muscle diseases such as muscular dystrophy.
“It’s exciting. The world is our oyster,” says Dr. Lisa Michaels, chief medical officer of Editas Medicine, which sponsored the study.
Knight and Calperer, for their part, are excited to see at least a little better.
“I am incredibly honored and honored to be a part of this event, and I am very, very, very excited to look forward to what the future holds,” says Calberer.
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