Doctors celebrate the feat and await the results. The patient has the rare Leber congenital amaurosis syndrome, which causes blindness in childhood.
Doctors used the CRISPR gene-editing tool for the first time inside a human body. The patient who tested the unprecedented technique suffers from a rare genetic condition called Leber’s congenital amaurosis, one of the main causes of childhood blindness. The procedure was performed at the Oregon Institute of Health and Science in the United States.
In such cases, scientists are unable to treat patients with standard gene therapy, that is, providing a replacement gene. With CRISPR, they intend to edit or delete the mutation that causes the disease, making cuts in the individual’s DNA. What is expected is that when the tips of the DNA reconnect, they allow the gene to function as it should.
The procedure is done during an hour of surgery under general anesthesia. Through a hair-wide tube, doctors drip three drops of liquid that contains the gene-editing mechanism just below the retina, or the lining at the back of the eye that contains cancer cells.
According to the researchers, it can take up to a month to see if the method really works or not. If the result is positive, doctors are ready to run more tests on 18 children and adults.
Leber’s congenital amaurosis
Leber’s congenital amaurosis is caused by a genetic mutation that prevents the body from producing a protein necessary to convert light into signals in the brain, which produces our vision. In most cases, people with this condition are born with low vision and may lose it completely within a few years.
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For Fyodor Urnov, who studies gene editing at the University of California at Berkeley, the use of CRISPR in the human body is a significant leap for medicine.
“It is similar to space flight versus a regular plane trip. The technical challenges and safety concerns are much greater,” he exemplified in an interview with Nature magazine.