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Gene therapy that gives cricket-mad Jake, 23, a chance to hit blindness for six

Ready for action, cricket-mad Jake Ternent is getting ready to face the next ball coming his way.

The 23-year-old fell in love with the game as a young teenager and has played regularly over the past ten years and earned a reputation as an accomplished all-rounder. It’s an amazing achievement – because Jake has been almost completely blind since birth.

A hereditary condition called Leber’s congenital amaurosis left him with no more than five percent vision in his right eye and 20 percent in his left.

Jake Ternent, pictured, from Ludworth, County Durham suffers from a hereditary eye condition that gives him 5 percent vision in his left eye and 20 percent in his right side

Jake Ternent, pictured, from Ludworth, County Durham suffers from a hereditary eye condition that gives him 5 percent vision in his left eye and 20 percent in his right side

Jake, in the photo, with his family, is the first man in the country to receive the groundbreaking treatment that, according to experts, can repair the damage to his eyesight

Jake, in the photo, with his family, is the first man in the country to receive the groundbreaking treatment that, according to experts, can repair the damage to his eyesight

Jake, in the photo, with his family, is the first man in the country to receive the groundbreaking treatment that, according to experts, can repair the damage to his eyesight

During the 90-minute procedure, a gene called RPE65 was inserted into his right eye to correct the genetic error that cost him his eyesight. In April he has the left eye do it

During the 90-minute procedure, a gene called RPE65 was inserted into his right eye to correct the genetic error that cost him his eyesight. In April he has the left eye do it

During the 90-minute procedure, a gene called RPE65 was inserted into his right eye to correct the genetic error that cost him his eyesight. In April he has the left eye do it

Doctors have warned his parents that the little vision he still has will almost certainly disappear as he gets older, making him completely blind. But Jake, who heads his local visually impaired cricket team, could defy doctors’ predictions.

Three weeks ago, he became the first NHS patient to undergo pioneering gene therapy for blindness.

During the 90-minute procedure, a gene called RPE65 was inserted into his right eye to correct the genetic error that cost him his eyesight. In April he has the left eye do it.

It is hoped that the implanted genes will cause a remarkable recovery process in the back of the eyes, correcting the damage caused by Jake’s blindness.

It may take several months for Jake to know for sure if the advanced treatment has worked, but clinical studies with dozens of British patients have proven that the therapy works.

The result is potentially life-changing – and raises the possibility that similar treatment can save hundreds, if not thousands, of Britons from blindness.

Jake, from Ludworth in County Durham, is studying to become a sports coach. He says: “I had always resigned myself to the idea that one day I would become completely blind.

“I never believed there could be anything in my life that could help.”

At this time of the year, Jake is unable to venture out of the house alone as soon as it gets a little dark. In the winter this can already be at 4 p.m.

At this time of the year, Jake is unable to venture out of the house alone as soon as it gets a little dark. In the winter this can already be at 4 p.m.

At this time of the year, Jake is unable to venture out of the house alone as soon as it gets a little dark. In the winter this can already be at 4 p.m.

At this time of the year, Jake is unable to venture out of the house alone as soon as it gets a little dark. In the winter this can already be at 4 p.m.

“I see nothing in low light and I have to rely on relatives to help,” he says.

But if the therapy works, he can socialize with friends in the evenings – like most people his age do.

“Hopefully it will have a big effect on my night vision and I can see much more in the dark,” he says.

“But to be honest, even if this therapy just stabilizes my vision and prevents me from losing what I have, that would be great.”

Leber congenital amaurosis or LCA is rare and affects only one in 80,000 people. But it is still the most common form of hereditary loss of sight in children. The gene defect means that light-sensitive photoreceptor cells at the back of the eye do not work properly, leading to severe tunnel vision, night blindness and trembling eyes – where they move up and down or left to right uncontrollably.

What few people with vision have tends to disappear as they get older. Until now there has been no effective treatment.

But the radical new gene therapy, developed by researchers at Moorfields Eye Hospital in London and The Institute of Ophthalmology at University College London, offers new hope.

It involves giving a general anesthetic to the patient, making a small slit less than a millimeter wide in the whites of the eye and injecting a virus that contains the corrective gene in the back of the eye.

The type of virus used is called an adeno-associated virus. They are common in humans but do not cause disease.

Doctors often use viruses in gene therapy because they are an excellent way to get the healing gene into the cells that need to be repaired. The virus breaks into the photoreceptor cells and delivers its genes.

Jake, from Ludworth in County Durham, is studying to become a sports coach. He says: “I had always resigned myself to the idea that one day I would become completely blind. “I never believed there could be anything in my life that could help”

Once in the damaged cells, the gene gives instructions for the cells to produce the vital proteins needed to restore them to good health. These proteins start the repair process, so that the cells can again become sensitive to light – which improves visibility. The virus dies without doing any harm. “The virus is in fact a courier,” says Professor James Bainbridge, retinal surgeon consultant at Moorfields Eye Hospital, who was part of the team that performed Jake’s surgery.

‘It breaks through the cell membrane and delivers the gene where we want it. What we do is repair the damaged photoreceptor cells. “

He adds: “We expect improvements within a few weeks or months, especially in night vision.

“Jake was the first to have it on the NHS, but there are probably around 50 patients who are currently eligible for treatment,” says Prof. Bainbridge.

“The majority can expect an improvement in their vision.”

The treatment works best in patients such as Jake, where photoreceptor cells can be damaged but have not died completely.

Prof. Bainbridge says, “That’s why we think younger patients benefit more because they’ve lost the same number of cells less often.”

Jake, who wore a patch two weeks after surgery, says he hopes that many more patients will benefit now that this type of gene therapy is available at the NHS.

“There was no way I could have received this treatment without the NHS – it’s great. I am so grateful for the opportunity to get it. I really hope it works. ”

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