MAJOR STEP FOR SCIENCE: Gene-editing helps man see again

FOX 5 NY first introduced viewers to Michael Kalberer in May. He spoke to us about being the second participant in the world in a groundbreaking medical trial designed to try and restore vision to visually impaired patients. 

"What I was seeing prior to the surgery last September, my central vision was very obscured," Kalberer said. "It was probably the size varying between a Q-tip and dime."

Now his surgically-treated right eye no longer experiences an underwater sensation, he said. Also, the circumference of his vision in that eye is now closer to the size of a quarter. 

"I've also started to see changes in light perception — things like silhouettes of objects like a fork or food on a plate and even color which was pretty cool," Kalberer said.

The study he is part of involves the revolutionary gene-editing technique called CRISPR, which allows scientists to make precise changes in DNA.

Kalberer, who lives on Long Island, reflected on one of the most impactful moments for him a few months back, when he was in the car with a friend. 

"I said, 'I see pink,'" she said. "She's driving, she pulls over and says, 'Yeah, you see the sunset.'"

In studies done to date with CRISPR, doctors take cells out of the body, edit them in a lab and then infuse those edited cells back into patients. This is the first time scientists are using CRISPR to edit DNA still inside a patient's body. The retina, for instance, can't be removed because it's attached to the brain. 

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For Kalberer, who was born with cerebral palsy, this is life-changing. He shared videos with us of him picking up and drinking from a glass — something he couldn't do easily just last year.

"My visual field was so constricted that my muscles would tense up and they would tense up when I was trying not to spill it," Kalberer said. "So visually, now that I recognize the glass as a glass, I can grab that easily because my eyes relax my brain." 

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Dr. Eric Pierce, one of the trial investigators with Mass Eye and Ear, sent a statement to FOX 5 NY. 

"We're thrilled to see early signs of evidence that gene editing is working and functioning inside the body. This has never been done before and is a major step for science," Pierce said. "In Michael's case, he's seeing improvements in his visual function, which is incredibly exciting."

"Still striving to be my very best and to make sure that changes in my vision don't cause alterations in my attitude or work ethic or who I am as a person, that's what I want people to know," Kalberer said. "I'm still the same person I was, if not a slightly more appreciative person."

The next step is for Kalberer to continue testing at Mass Eye and Ear to track progress in vision and the safety of the trial. The hope is for this CRISPR treatment to become more widespread in the years to come.

ScienceMineola