by Chad Nelson

Procedure with CRISPR tool ‘very exciting’

Scientists say they have used the gene editing tool CRISPR inside someone’s body for the first time, a new frontier for efforts to operate on DNA, the chemical code of life, to treat diseases.

A patient recently had it done at the Casey Eye Institute at Oregon Health & Science University in Portland for an inherited form of blindness, the companies that make the treatment announced Wednesday. They would not give details on the patient or when the surgery occurred.

It may take up to a month to see if it worked to restore vision. If the first few attempts seem safe, doctors plan to test it on 18 children and adults.

“We literally have the potential to take people who are essentially blind and make them see,” said Charles Albright, chief scientific officer at Editas Medicine, the Cambridge, Massachusetts- based company developing the treatment with Dublin-based Allergan. “We think it could open up a whole new set of medicines to go in and change your DNA.”

Dr. Jason Comander, an eye surgeon at Massachusetts Eye and Ear in Boston, another hospital that plans to enroll patients in the study, said it marks “a new era in medicine” using a technology that “makes editing DNA much easier and much more effective.”

Doctors first tried in-the-body gene editing in 2017 for a different inherited disease using a tool called zinc fingers. Many scientists believe CRISPR is a much easier tool for locating and cutting DNA at a specific spot, so interest in the new research is very high.

The people in this study have Leber congenital amaurosis, caused by a gene mutation that keeps the body from making a protein needed to convert light into signals to the brain, which enables sight. They’re often born with little vision and can lose even that within a few years.

Scientists can’t treat it with standard gene therapy – supplying a replacement gene – because the one needed is too big to fit inside the disabled viruses that are used to ferry it into cells.
So they’re aiming to edit, or delete the mutation by making two cuts on either side of it. The hope is that the ends of DNA will reconnect and allow the gene to work as it should.

It’s done in an hourlong surgery under general anesthesia. Through a tube the width of a hair, doctors drip three drops of fluid containing the gene editing machinery just beneath the retina, the lining at the back of the eye that contains the light-sensing cells.

“Once the cell is edited, it’s permanent and that cell will persist hopefully for the life of the patient,” because these cells don’t divide, said one study leader not involved in this first case, Dr. Eric Pierce at Massachusetts Eye and Ear.

Doctors think they need to fix a 10th to a third of the cells to restore vision. In animal tests, scientists were able to correct half of the cells with the treatment, Albright said.

The eye surgery itself poses little risk, doctors say. Infections and bleeding are relatively rare complications.

One of the biggest potential risks from gene editing is that CRISPR could make unintended changes in other genes, but the companies have done a lot to minimize that and to ensure that the treatment cuts only where it’s intended to, Pierce said. He has consulted for Editas and helped test a gene therapy, Luxturna, that’s sold for a different type of inherited blindness.
Some independent experts were optimistic about the new study.

“The gene editing approach is really exciting. We need technology that will be able to deal with problems like these large genes,” said Dr. Jean Bennett, a University of Pennsylvania researcher who helped test Luxturna at the Children’s Hospital of Philadelphia.

In one day, she had three calls from families seeking solutions to inherited blindness.

“It’s a terrible disease,” she said. “Right now they have nothing.”

Dr. Kiran Musunuru, another gene editing expert at the University of Pennsylvania, said the treatment seems likely to work, based on tests in human tissue, mice and monkeys.

The gene editing tool stays in the eye and does not travel to other parts of the body, so “if something goes wrong, the chance of harm is very small,”

By Chad Nelson

More visual assistance for people coping with sight loss is on the way! The American Council of the Blind, ACB, working with other allied organizations is aiming to improve the quantity of audio described projects. The goal is to bring more meaning and entertainment to Cultural events, movies, televised series, and educational offerings for Blind and visually impaired individuals. The goal is to have more audio description!
Audio description or voice over narrative makes the visual imagery of paintings, television, movies, museums, educational materials, works of art, and the wonders of national parks accessible to people challenged by sight loss. The unseen visual elements being described can include scenery, costumes, gestures, settings, facial expressions, and all other visually important images. Action films usually containing little dialogue an overwhelming musical score, explosions, gunshots, and screams are made understandable having the nonverbal actions and characters audibly described.
The ACB maintains a list of 3,368 described DVD’s, television broadcasts, movies, performing arts series, museums, and national parks all available at: www.ACB.Org/adp

Retinitis Pigmentosa, commonly referred to as RP, is one of the leading causes of blindness in the United States. There are over two hundred forms of RP. The National Institute of Health sponsors research involved in drug or gene therapies designed to reduce the “noise” which is often clutter or the pigmenting of good retinal cells. The “noise” seems to be generated by nerve cells in the retina reducing vision. The therapies work by repairing or limiting the “noise” generated by these nerve cells.

UC Berkeley neurobiologists have already shown that this approach improves vision in mice with RP that would slowly leave them Blind.

The work at Berkeley is funded by the National Eye Institute, and the Thome and Fighting Blindness.

HumanWare has provided a simple method for learning how to use four of their products- Victor Reader Stream, Victor Reader Track, Braille Note Apex, and Braille Note Touch.

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A recently developed service for people with little or no sight called AIRA is being employed in major cities throughout the United States. This new service uses a combination of augmented visual reality, artificial intelligence, and professional agents who provide instant access to objective visual information. Horizon Smart Glasses, with a miniature camera and two-way FM broadcast features are tethered to a distant agent who monitors and explains to the explorer what the Smart Glasses camera is “seeing”.

Smart glass wearers are referred to as explorers and that they are. AIRA empowers people who are visually impaired or Blind to regain their daily living skills, like taking uncharted walks and hikes, reading, using optical scanning devices, cooking, identifying colors, managing money, getting Uber or Lift rides, and more actively participating in all family activities. Wearing a pair of AI Smart Glasses tethered to a horizon controller, explorers can navigate all aspects of daily living. Using the AIRA service immediately improves the quality of life, provides instant access to all forms of information, helps to quickly complete tasks, and creates awareness of any situations that surrounds you. It enables faster low vision/blindness rehabilitation, steadily improves confidence levels when approaching daily living and more complicated tasks.

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