Gene therapy for retinal disorders is kind of low hanging fruit in the gene therapy world because the affected cells are few in number, well contained and relatively accessible (despite needing to stick needle into the patients eye).
There is already an FDA approved treatment for one heritable form of retinitis pigmentosa.
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.
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.
Nope, this is definitely a retinal surgery. Sub-retinal injections are actually done through the inside of the eye.
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.
I don't think this is comparable. The needle must reach the retina. I am no expert but I recall the phase one trials were done to merely test if the vector was safe.
This is off-topic, but can someone educate me on how to read clinicaltrails.gov? When looking at a trial page, it's hard for me to tell the result of the trial. Usually it just says "Completed" with "No results posted". Also, it doesn't show which phase the study is in, with no history of the previous phases.
Phase is listed, this trial was phase 1 and 2 (2a in particular according to the paper). The summary usually contains motivating background information about why they’re taking this approach.
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.
Thanks for sharing. That must've been a huge disappointment to come out of the study with that and very difficult to deal with. I'm awaiting the start of trials for blue-cone (x-linked achromatopsia). I've been very uncertain of how badly I wish to participate.
Your genes are like blue prints. Your diet and lifestyle are like the building blocks feed into a machine trying to follow the blue prints.
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.
> study after study after study shows that "diet and lifestyle" are major factors in every deadly disease from cancer to diabetes to heart disease
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.
As true as that is, it is remarkably hard to get evidence-based, clear guidance on what to eat and not eat.
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.
While I agree that diet and lifestyle has an impact on multiple cancer types (most obvious examples that come to mind are smoking and certain types of lung cancer, or high fat diet and certain types of liver cancer), I'm not aware of the risk factors of retinoblastoma. In my understanding it's mainly genetic factors.
Sorry, that wasn't what I was suggesting. It's a more general observation.
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.
There is nothing smug about it. It isn't about some abstract ideology. It is a very practical concern and this tendency to focus on shiny tech negatively impacted initial response to the current global pandemic.
The initial response to the current pandemic was for a lot of groups to do things like work on developing open source ventilators, which I felt was a bad idea and the wrong approach and I expressed my concerns at the time about it. It eventually became clear that people with Covid-19 were poorly served by ventilators.
If everyone had remained stuck on "Let's just provide ventilators," this pandemic could have been even worse than it was. Fixation on shiny tech as a medical solution is a very serious problem with practical real world consequences that directly impacts availability of viable treatment for patients.
I'm not sure what your point is. Yes, diet and lifestyle are important for a whole host of health reasons. No-one disagrees with that. And yes, some people said things about ventilators at the start of the pandemic which now appear dumb.
Neither of those apply here. Conflating research into gene editing technologies to fix previously unsolvable medical problems with a 'fixation on shiny tech' and implying that this research is just flashy headline grabbing, is insulting to people who suffer every day as a result of these conditions and stand to gain considerable quality of life improvements if this research ultimately leads to new treatments in humans.
As someone with an inherited ocular disease, I'd like to know what diet and lifestyle changes you think I could make that could restore my cone function.
That's not a question I can answer. I don't know what the genetic pathway is, nor how it operates.
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.
I'm fortunate in that my condition is not degenerative. So further loss of ability is not a risk, at least not above what generally occurs as a result of ageing.
But no diet or exercise is ever going to restore ability that was never there.
Those are incredible results. I wonder what the next three decades will produce in medicine. More precise CRISPR and more computing power and better machine learning to simulate as much as possible before trial. And the 2020 pandemic which has costed US 16 trillion so far, so close to 100 trillion world-wide. If the public, governments and corporations accept to buy an insurance policy for 1% yearly of that amount in the form of more bio R&D, then this is the perfect storm.
I've never seen it, but I have heard that is basically the plot for the movie The Island: What happens when we get to the logical end point and it turns out you need to grow a whole person for things to work right.
Funny, I see zero evidence that the Syphilis experiment done on Black men in Alabama without their consent has done anything at all for the status or health of Black Americans.
It seems to me their lives still suck more than average for Americans.
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.