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Within the context of two distinct gene therapy studies, researchers have successfully restored vision and hearing in individuals who were born with congenital blindness or deafness.
With the use of gene therapy, a hearing-impaired child from the United Kingdom has become the first person to have their hearing restored.
Following the revolutionary treatment, it has been reported that Opal Sandy, who is 18 months old, has been having a great time playing the drums and chatting with her parents.
As a result of an extremely uncommon hereditary mutation in the OTOF gene, Opal was born with difficulties hearing.
The procedure lasted just sixteen minutes and included injecting a virus known as AAV1 into her cochlea. The virus was completely safe. Within the cochlea, it introduces a functioning copy of the OTOF gene, which results in the restoration of functionality in her ear.
Across the whole world, Opal is the very first patient to undergo the treatment.
Using CRISPR gene therapy, eyesight may be restored
A few days ago, researchers employed a gene therapy to restore eyesight in individuals who were born with a rare kind of hereditary or congenital blindness. The news comes after the announcement.
CRISPR-Cas9, a distinct gene editing technique, was used by the researchers in an independent experiment conducted by the scientific community.
It was reported by the researchers that eleven out of fourteen participants in a clinical experiment saw an improvement in their eyesight, and there were no major unfavorable side effects.
It was also the first time that gene therapy was used to treat infants who were born with a kind of blindness, according to the researchers who conducted the trial.
Participants were “thrilled” to be able to view the food that was on their plates, according to Eric Pierce, who was the leader of the research and was affiliated with Harvard Medical School.
“These were individuals who could not read any lines on an eye chart and who had no treatment options, which is the unfortunate reality for most people with inherited retinal disorders,” Pierce said in a statement that was released.
On May 6, 2024, the results were revealed in an article that was published in The New England Journal of Medicine.
With CRISPR gene editing, ‘BRILLIANCE’ is brought about
“BRILLIANCE” was the name of the clinical study, and it included a total of twelve adults and two children who were affected with a rare type of genetic blindness known as Leber congenital amaurosis (LCA).
Approximately one in forty thousand persons are affected with LCA, which results in significant vision loss at a young age.
This blindness is brought on by a mutation in a gene that inhibits a protein from performing its functions exactly as it should. This particular protein, known as CEP290, is essential for vision.
A single dosage of a CRISPR gene therapy known as EDIT-101 was administered to each participant in the trial.
DNA may be altered in a very specific manner using CRISPR-Cas9. It removes certain strands of DNA, which are the components that determine who we are, and replaces them with new strands of an identical DNA sequence.
With regard to EDIT-101, the therapy involves removing the mutation that is present in CEP290 and replacing it with a healthy strand of DNA that is inserted into the gene. The normal function of the protein CEP290 is restored as a result of this, which enables the retina to sense light.
For their discovery of CRISPR-Cas9, Emmanuelle Charpentier and Jennifer A. Doudna were presented with the Nobel Prize in Chemistry in the year 2020.
Vision may be restored using EDIT-101 gene therapy
After getting the therapy, the participants in the BRILLIANCE trial were evaluated on their ability to see different colored lights, traverse a short labyrinth in different levels of light, and read from a chart.
With the exception of three individuals, almost all of the subjects had some degree of visual improvement. Six of the participants saw significant improvements in their quality of life in relation to their eyesight, and they were able to recognize letters and objects on a chart.
The researchers found that the individuals did not experience any severe unfavorable side effects as a result of taking EDIT-101. There were a few people who reported experiencing modest side symptoms that went away soon.
RNA therapeutics that are specifically customized to each individual patient
Additionally, experimental CRISPR technologies have been used to treat more than two hundred individuals. For the time being, however, there is just one CRISPR medicine that has been licensed for clinical usage. Casgevy, a treatment for sickle cell disease, has been accessible in the United States of America, the United Kingdom, and the European Union since December 2023.
It has been said by scientists that they are entering a new phase in the development of genome editing technologies. They claim that these technologies may safely assist and cure individuals suffering from a wide range of disorders, rather than just treating them.
Clinical studies are now being conducted to investigate further CRISPR medicines for the treatment of HIV/AIDS, diabetes, cancer, cardiovascular illnesses, and antibiotic resistance.
