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Deaf girl is cured in world first gene therapy trial

independent.co.uk

21–30 of 351 posts

Re: Deaf girl is cured in world first gene therapy trial

#21
post #2

Is this an application of CRISPR?

No, this is an adeno-associated virus (AAV) gene insertion. An engineered version of a naturally occurring virus inserts a working copy of the OTOH gene into the genome of cells in the inner ear.

EDIT: I was incorrect. It seems that the virus doesn't actually does not insert itself into the genome. Instead it forms a circular DNA loop (episome) in the cell that is like an extra chromosome. The normal DNA reading machinery can make RNA from the circular DNA loop just like it can from a normal chromosome, so you get working proteins. The benefit is that you don't risk inserting the viral DNA into a normal chromosome at a spot in the DNA sequence that would break some other protein. This is the main difference from CRISPR. CRISPR is designed to directly alter genomic DNA.

Re: Deaf girl is cured in world first gene therapy trial

#22
post #7

Earlier quoted context omitted.

Science doesn't (and shouldn't) care for how people socialize around a disability. I recognize the power and a reclaimed self worth that comes with reframing narratives around deafness. The lack of hearing is a disease. Because diseases are nominatively about being at dis-ease. As long as it's difficult for deaf people to socialize with those who outside the community, it dis-eases them.

like someone mentioned in a separate comment, you are conflating disease with disability here. when people become too old to walk without assistance, you wouldn't say that they have a walking disease.

> like someone mentioned in a separate comment, you are conflating disease with disability here. when people become too old to walk without assistance, you wouldn't say that they have a walking disease.

This girl's disease was a genetic auditory neuropathy.

They cured her genetic auditory neuropathy.

Pedantic arguments about what it's called are missing the point. The person had a specific disease. It was cured.

Re: Deaf girl is cured in world first gene therapy trial

#23

[flagged]

> the deaf community does not consider the lack of hearing a disease

The treatment addressed a specific disease: A genetic auditory neuropathy.

It's in the subheading which is the second line when you click the link.

You're really stretching to suggest that they are trying to imply that all "lack of hearing" is a disease when even the headline talks about gene therapy and the sub heading makes it clear that it was a specific genetic disease.

This is a case of unnecessarily bringing drama to a situation that doesn't even represent that drama.

Re: Deaf girl is cured in world first gene therapy trial

#24

I’m optimistic that at some point, I’ll be able to get a treatment to take care of my red green color blindness. I’m well aware that it’s very much a first world problem, and rightfully should be very low on the totem pole of medical issues to cure. But goddamnit, I want to see red.

I don't really know enough of the medical details - I thought people with color blindness lacked the proper receptors in their eyes, so it's not like in the article where a connection is restored; you'd have to grow new infrastructure in the eye which seems a bit more complicated. Nevertheless, would be very cool if possible - I know lots of men with color blindness.

Re: Deaf girl is cured in world first gene therapy trial

#25
What always interests me with stories of people hearing or seeing for the first time in their life, what is it like to gain a new sense?

One would think that growing up with a sense is integral to its processing (and filtering) and the sudden introduction of a sense later in life would come with all sorts of side effects.

Re: Deaf girl is cured in world first gene therapy trial

#26
post #8
post #6

Earlier quoted context omitted.

a disability isn't a disease.

If a disability means anything it means acknowledging you need 'help' in some form.

If a condition can be applied to the human experience writ large—needing help in some form—you might consider that “disease”, but you’d be deeply into the territory of existential philosophy and/or hyperbole.

Re: Deaf girl is cured in world first gene therapy trial

#27

[flagged]

I used to live in Texas near the biggest deaf school in the U.S. From my understanding, some people in the deaf community do consider the word "cured" to be offensive because they don't consider their condition to be a disease.

I don't know if that's the dominant view and preference, but if that's the case, perhaps we should all learn to respect their culture, as much as we're all learning to respect (up to some point) people's self-identified identities, preferred pronouns, etc. It's a matter of education and cultural change so that more people are aware and respectful.

For those saying that science should not consider people's preferences, that's true but communicating about science definitely should. At least up to some point where they're not offending a large number of people.

(..Hmm, but should they really? What about religious people who are offended by the idea of evolution..)

Re: Deaf girl is cured in world first gene therapy trial

#29

Earlier quoted context omitted.

like someone mentioned in a separate comment, you are conflating disease with disability here. when people become too old to walk without assistance, you wouldn't say that they have a walking disease.

> like someone mentioned in a separate comment, you are conflating disease with disability here. when people become too old to walk without assistance, you wouldn't say that they have a walking disease. This girl's disease was a genetic auditory neuropathy. They cured her genetic auditory neuropathy. Pedantic arguments about what it's called are missing the point. The person had a specific disease. It was cured.

to you, this is a pedantic argument. but to millions of Deaf people in the US alone, this is a very important political point. for example, lots of Deaf people who prefer to live without cochlear implants face lots of pressure from people who consider deafness to be a "disease" to be "cured", when in fact, they feel their most authentic way of living to be something different. in this way, language is significant

Re: Deaf girl is cured in world first gene therapy trial

#30

What always interests me with stories of people hearing or seeing for the first time in their life, what is it like to gain a new sense? One would think that growing up with a sense is integral to its processing (and filtering) and the sudden introduction of a sense later in life would come with all sorts of side effects.

If I could just finally achieve a true kundalini awakening, then I could tell you.
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