While hundreds of millions of people in the world live with hearing loss that is defined as disabling, Aissam is among those whose deafness is congenital. His is an extremely rare form, caused by a mutation in a single gene, otoferlin. Otoferlin deafness affects about 200,000 people worldwide.
The goal of the gene therapy is to replace the mutated otoferlin gene in patients’ ears with a functional gene.
Although it will take years for doctors to sign up many more patients — and younger ones — to further test the therapy, researchers said that success for patients like Aissam could lead to gene therapies that target other forms of congenital deafness.
...
Although otoferlin mutations are not the most common cause of congenital deafness, there is a reason so many researchers started with it. That form of congenital deafness, said Dr. John A. Germiller, an otolaryngologist who is leading the CHOP study, is “low hanging fruit.”
The mutated otoferlin gene destroys a protein in the inner ear’s hair cells necessary to transmit sound to the brain. With many of the other mutations that cause deafness, hair cells die during infancy or even at the fetal stage. But with otoferlin deafness, hair cells can survive for years, allowing time for the defective gene to be replaced with gene therapy.
...
Yet despite the promise of otoferlin gene therapy, finding the right patients for the trial was difficult.
One issue is the very idea of treating deafness.
“There is an internal Deaf community that doesn’t see itself as needing to be cured,” said Dr. Robert C. Nutt, a developmental and behavioral pediatrician in Wilmington, N.C., who is deaf.
...
Most babies born with otoferlin deafness get cochlear implants in infancy and are therefore ineligible for the trial. The implants somewhat alter the cochlea, which could hamper the interpretation of gene therapy results.
The Food and Drug Administration, which allowed the CHOP study to go forward, asked that, for safety reasons, the researchers start with older children, not infants, and treat only one ear.
The challenge for the U.S. study was to find older children whose parents would agree to the study, who had otoferlin deafness and who did not have cochlear implants.
...
But no matter how well the gene therapy works, the researchers recognize that Aissam may never be able to understand or speak a language, Dr. Germiller said. The brain has a narrow window for learning to speak beginning around ages 2 to 3, he explained. After age 5, the window for learning spoken language is permanently shut.
Hearing can still help patients even if they never learn to speak, he noted. They can hear traffic or know when someone is trying to communicate. The ability to hear also can help with lip reading.
...
Now that gene therapy has proved safe for Aissam and for another child in Taiwan treated two months after him, researchers at the hospital in Philadelphia are able to move on to younger children. They have two lined up, a 3-year-old boy from Miami and a 3-year-old girl from San Francisco, both of whom got cochlear implants in only one ear, so that the other could be treated with gene therapy.
...
Of the other studies, two are in China where investigators are treating younger children and in both ears. Results from one, supported by the National Natural Science Foundation of China and Shanghai Refreshgene Therapeutics, will be reported Wednesday in the journal The Lancet. The other is supported by Otovia Therapeutics and various programs in China.
A third study is sponsored by Regeneron and Decibel Therapeutics. Researchers in Europe so far have treated one child, who is younger than 2, and in one ear. Another study by Sensorion is expected to start this month.
As someone with an interest in linguistics, I was excited to see what the outcome was, but the article seemed a bit muddled. From Dr. Germiller, an otolaryngologist: It says Aissam didn't learn...
As someone with an interest in linguistics, I was excited to see what the outcome was, but the article seemed a bit muddled.
From Dr. Germiller, an otolaryngologist:
But no matter how well the gene therapy works, the researchers recognize that Aissam may never be able to understand or speak a language, Dr. Germiller said. The brain has a narrow window for learning to speak beginning around ages 2 to 3, he explained. After age 5, the window for learning spoken language is permanently shut.
Hearing can still help patients even if they never learn to speak, he noted. They can hear traffic or know when someone is trying to communicate. The ability to hear also can help with lip reading.
It says Aissam didn't learn Spanish Sign Language until he was eight but that he could communicate with some of his own signs before that. Home sign systems like the one he developed are more complex than gestures but still not a full language.
It might be that Germiller meant speaking and listening, specifically, and not linguistic capability in general; neurologically, a sign language shouldn't be any different than a spoken one.
On a side note, have you looked into this emerging trend of giving language to dogs? I wonder if it changes the way dogs think in a similar way that learning computer coding or law changes how we...
On a side note, have you looked into this emerging trend of giving language to dogs? I wonder if it changes the way dogs think in a similar way that learning computer coding or law changes how we think.
I think this is an emerging interest since the majority of information is anecdotal and not strictly and scientifically proven through a controlled study. But it seems like there's good reason to...
I think this is an emerging interest since the majority of information is anecdotal and not strictly and scientifically proven through a controlled study. But it seems like there's good reason to follow up. There's an active research program out of University of California, San Diego which is led by cognitive scientist, Dr. Federico Rossano. I think the research pool is something like 10,000 dogs. Curious to see where it goes.
This is great news. I know gene therapy (by any name is still genetic engineering) is a contentious field of science, as seen in what happened to He Jiankui after germ-line editing immunity to...
This is great news. I know gene therapy (by any name is still genetic engineering) is a contentious field of science, as seen in what happened to He Jiankui after germ-line editing immunity to HIV, but Pandora's Box is open so we might as well accept it and make the best of our new found ability. Just imagine being able to naturally synthesize Vitamin C again like dogs.
Born deaf, the 1-year-old boy had never responded to sound or speech before. But after receiving an experimental treatment injected into one of his ears, he started turning his head when his parents called his name. Five months later, he spoke his first words.
The boy is one of six children with a type of hereditary deafness who are part of a gene therapy trial in China. Five of the children can now hear, according to results reported today in the scientific journal The Lancet. The news follows an announcement this week that yet another child born with profound deafness can hear after receiving a similar treatment developed by US drugmaker Eli Lilly.
From the article (archive):
...
...
...
...
...
...
As someone with an interest in linguistics, I was excited to see what the outcome was, but the article seemed a bit muddled.
From Dr. Germiller, an otolaryngologist:
It says Aissam didn't learn Spanish Sign Language until he was eight but that he could communicate with some of his own signs before that. Home sign systems like the one he developed are more complex than gestures but still not a full language.
It might be that Germiller meant speaking and listening, specifically, and not linguistic capability in general; neurologically, a sign language shouldn't be any different than a spoken one.
On a side note, have you looked into this emerging trend of giving language to dogs? I wonder if it changes the way dogs think in a similar way that learning computer coding or law changes how we think.
I haven't heard much about that. Are there articles you'd recommend?
I think this is an emerging interest since the majority of information is anecdotal and not strictly and scientifically proven through a controlled study. But it seems like there's good reason to follow up. There's an active research program out of University of California, San Diego which is led by cognitive scientist, Dr. Federico Rossano. I think the research pool is something like 10,000 dogs. Curious to see where it goes.
Here's a little video that gives a decent idea of what this is all about. I don't know why Neil Gershenfeld is introducing the video except for adding cred. It's also not produced very well and comes across as almost promotional, but since when is commerce not found in bed with science?
*edit: hyperlink formatting correction
This is great news. I know gene therapy (by any name is still genetic engineering) is a contentious field of science, as seen in what happened to He Jiankui after germ-line editing immunity to HIV, but Pandora's Box is open so we might as well accept it and make the best of our new found ability. Just imagine being able to naturally synthesize Vitamin C again like dogs.
6 Deaf Children Can Now Hear After a Single Injection (Wired)