- Americans Michael Kalberer, 43, and Carlin Knight, 54, Gain Some Vision
- enough to create the silhouette and color, which he described as ‘amazing’
- Earlier this year he was among seven patients who had their DNA modified
Blind patients who volunteered for a pioneering gene-editing experiment have been able to recognize family members for the first time in years.
Michael Kalberer, 43, and Carlene Knight, 54, both suffer from an incurable eye disease that took away their vision in adulthood.
Earlier this year, they were among seven patients who allowed scientists to modify their DNA by injecting them with the gene-editing tool CRISPR.
While their vision is not fully restored, they are able to see colors, navigate hallways, and create silhouettes.
Mr Kalberer from Long Island revealed that he was able to recognize relatives on the dancefloor of his cousin’s wedding, something that had been impossible for years.
They told national public radio: ‘I could see the DJ strobe lights changing colors and recognize them from my cousins who were dancing with me. It was a very funny happy moment.’
Ms Knight, from Portland, Oregon, said she could clearly see colors for the first time as a child, which she described as “amazing”. To celebrate, she has dyed her hair her favorite color – green.
The pair signed up to receive the experimental treatment at Oregon Health & Science University in May.
This was the first time CRISPR – which has shown promise in treating conditions such as sickle cell disease – was ever used to edit a person’s genes inside their body.
Michael Kalberer, 43, of Long Island, reveals he was able to recognize relatives on the dance floor of his cousin’s wedding, something that had been impossible for years
Carlene Knight, 54, of Portland, Oregon, said she could finally see color for the first time since she was a child, which she described as “amazing.” To celebrate, she dyed her hair her favorite color – green.
Kalberer and Knight were both born with a rare genetic eye disorder called Leber congenital amaurosis (LCA).
Victims have rods and cones — cells that detect dim and bright light respectively — in the retina that don’t function properly.
Some are blind at birth while others experience visual loss over time, which was the case with Kalberer and Knight.
How does crisp DNA editing work?
CRISPR gene editing technology is being used extensively in health research because it can alter the building blocks of the body.
At a basic level, CRISPR works as a DNA cutting-and-pasting operation.
Technically called CRISPR-Cas9, the process involves sending new strands of DNA and enzymes into organisms to edit their genes.
In humans, genes serve as the blueprint for many processes and characteristics in the body – they decide everything from the color of your eyes and hair to whether or not you get cancer.
Components of CRISPR-Cas9 — the DNA sequence and the enzymes needed to implant it — are often sent into the body on the back of a harmless virus so scientists can control where they go.
The Cas9 enzymes can then cut the strands of DNA, effectively shutting down the gene, or remove sections of DNA that are to be replaced with CRISPR, the new segment sent to replace the gene. and have an effect that they have been pre-programmed to produce.
But the procedure is controversial because it can be used to replace babies in the womb – initially to treat diseases – but there may be a rise in ‘designer babies’ as doctors offer ways to alter fetal DNA .
Source: comprehensive institute
According to the National Organization for Rare Disorders, LCA is estimated to affect between one and two babies out of every 100,000 births.
Both patients have a variant of the disease caused by a defect in the gene CEP290, which regulates a protein that keeps the eye healthy.
While CRISPR typically involves taking cells out of the body, editing them in the lab, and then inserting them back into patients – this is not possible for diseases such as LCA.
This is because retinal cells are so fragile that they cannot be removed, edited and reinserted, NPR informed of.
In the test, three small incisions were made in Knight’s left eye and Kalberer’s right eye to insert billions of benign virus particles with CRISPR technology.
CRISPR cuts out the genetic mutation of cells that affect rods and cones, prompting the body to produce genes that function properly.
The scientists initially operated on only one eye, but plan to operate on the other eye if patients continue to improve.
Not all patients in the trial saw results, which are still unknown.
And among people like Knight and Kalberer, who saw the benefits, their vision is still not perfect.
But the results are so promising that it allowed researchers to go to a much larger group of patients.
Kalberer said that the ability to make out shapes and light and see better through his peripherals restored some normality to his life, including being able to eat outside.
He continued: ‘It has enabled me to navigate the food platter and find food a little bit easier.
‘If I look down at the plate of food and there is a spoon or a pot in it, I see the edge of the pot on the outside of the pot or plate.
‘So those changes are very, very important to me.’
Both Kalberer and Knight (pictured before treatment) were born with a rare genetic eye disorder called Leber congenital amaurosis (LCA).
Kalberer said that the ability to form shapes and light and see better through his peripherals has restored some normality to his life, including being able to eat outside.
To his surprise, he can now even see the color for the first time in years. He observed this procedure about a month later when a red car drove past.
Mr. Kalberer has been able to enjoy the simple pleasures of life, such as…