Study reveals restoration of retinal and visual function following gene therapy
som.uci.edu
som.uci.edu
There is already an FDA approved treatment for one heritable form of retinitis pigmentosa.
https://www.nature.com/articles/s41591-020-0763-1
There are currently active stage 2 trials for multiple forms of achromatopsia.
The risk is also mitigated because if the gene manipulation causes cancer, it should be relatively restricted to the eye, which can be removed in the worst case.
For a long time, gene therapy was shied away from because of an early case of oncogenesis with a lentiviral vector: https://pdfs.semanticscholar.org/cba7/d43412c1709861aea218e4...
It’s like neither of you read the article.
At least this requirement is much less nasty in a treatment for blindness than it would be in anything else.
Done before every lasix procedure, for instance. I don’t think it’s supposed to be that painful (there aren’t many nerves in the eye), just freaky. I believe oral sedatives are common.
Your eyeball is filled with vitreous humour which although technically a fluid is really like a thick layer of gelatine, surgical instruments can't navigate that.
Before a needle is able to reach that retinal area, the surgeon must perform what is known as a Vitrectomy which is basically a chop and suction of that gelatine in order to have a good visual and be able to accurately manipulate surgical instruments.
Source: worked in embedded software for ophthalmic surgery equipment.
This was a key detail I wasn’t able to find in the linked article, which was when the treatment was being applied.
They aren’t doing gene editing on embryos, but actually applying the treatment to living mice.
https://clinicaltrials.gov/ct2/show/NCT02317887
I had an adverse reaction to the vector and have had eight surgeries since to save some of the sight in the eye they injected.
The results haven’t been posted directly, but there is a publication linked that has some of the results so far.
A lot of this stuff is not rigidly structured - with a mix between recording actual data, references to actual data, or just having the study design if the trial is still early.
In vernacular architecture, local materials are used. An adobe house in the Southwest of the US looks very different from, say, an igloo.
That's kind of the difference the diet and lifestyle can make and it's something you can engineer yourself with enough reading, keeping a journal and so forth.
It won't fix everything, but study after study after study shows that "diet and lifestyle" are major factors in every deadly disease from cancer to diabetes to heart disease, yet people basically point and laugh if you suggest these are a legitimate means to address a serious condition with a genetic component.
The reality is that much medical research is aimed at the ability to look impressive in headlines and far too little of it is aimed at genuinely improving human health and quality of life. And noting that gets far too much flak from far too many people.
As true as that is, it is remarkably hard to get evidence-based, clear guidance on what to eat and not eat. Instead, it's a bunch of competing camps, with none having comprehensive evidence.
We're not far out of the caves when it comes to nutrition.
That's in part because food is extremely complex, so it's hard to isolate nutritional factors.
It can be done to some degree, but it's hard. There are some best practices for how to pursue it, but it tends to not get recognized as a legitimate approach because it falls outside the way science is typically done.
I'm aware it is sort of "off topic." But being "on topic" for this stuff means basically agreeing with the default ideology.
It's sort of like racism and sexism in that regard: There is no time or place where it's socially acceptable to state the obvious. It's "rude" and "off topic" and "this isn't the time or place for that" etc.
It is a question I wish science had some answers for.
Though based on firsthand experience I will say that prevention of loss of ability is generally a more realistic and achievable goal than restoring lost ability.
If you want to know what foods have been helpful to me, personally, in dealing with a different genetic disorder, I could answer that question to some degree. Though I generally dislike trying to do so in a comment on a forum, in part because it's something I have been working on for nearly twenty years, so an off-the-cuff comment generally isn't going to be an adequate explanation.
But no diet or exercise is ever going to restore ability that was never there.
I mean, little parts at first...then whole organs, then whole systems, then everything but the brain, etc etc.
It seems to me their lives still suck more than average for Americans.
Thanks!