We are talking about patients with Leber’s amaurosis, a rare congenital retinal disease that affects about one in 40 thousand newborns. The genetic mutation leads to complete blindness in about a third of patients, and there are currently no approved treatment options.
At the same time, a study conducted in 2021-2023 using the CRISPR gene editing tool showed promising results — the technology was used to correct
The tool essentially «cuts» defective parts of genes, which can then be replaced with new strands of normal DNA. the main culprit of the disease, the CEP290 gene, in 14 patients.
Each of the patients received treatment in one eye, and then the researchers monitored the results on four measures: identification of objects and letters in a chart; how well the patients could see colored dots of light in a full-field test and how well they could navigate a maze with physical objects and different light levels; and their own experience of changes in quality of life.
Of the 14 participants, 11 (79%) showed improvement in at least one of these four outcomes, while six (43%) improved two or more outcomes. 6 reported a better quality of life due to partial vision correction, while 4 (29%) showed clinically significant improvement in eye chart tests.
«There is nothing more satisfying for a doctor than to hear a patient describe how their vision has improved after treatment,» said Mark Pennesi, author of the study. «One participant was able to find his phone after losing it and saw that his coffee machine was working by catching its small lights. While these types of tasks may seem trivial to people with normal vision, such improvements can have a huge impact on the quality of life for people with blindness».
No serious side effects were observed, and all of the mild to moderate side effects disappeared. The study suggests that CRISPR may be effective and safe not only for patients with Leber’s amaurosis, but potentially for other forms of blindness or genetic diseases in general.
The study was published in New England Journal of Medicine.
Since the creation of the CRISPR/Cas9 method in 2012, this technology has led to many important discoveries in basic research — for example, botanists have been able to develop crops that are resistant to mold, pests, and drought. In medicine, clinical trials of new cancer treatments are underway, and in the future, hereditary diseases are expected to become curable. In 2020, scientists Jennifer Doudna and Emmanuelle Charpentier were awarded for the development of CRISPR was awarded the Nobel Prize in Chemistry.
Source: New Atlas
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