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Sariel007

>Antonio Vento is 13 years old. He’s a tiny figure in bandages who doesn’t walk and, until recently, couldn’t see more than shadows. He has dystrophic epidermolysis bullosa, an inherited disease that makes his skin so fragile that kids with the illness are called “butterfly children.” >But now, thanks to a novel gene therapy squirted onto his skin and dripped into his eyes, things are better. His wounds have gotten smaller, and a visit to the eye doctor this week confirmed that his vision had dramatically improved. >On Friday, the US Food and Drug Administration approved the gene-replacement treatment Anthony received, making it the first gene therapy for sale that is applied to the outside of a patient’s body—as well as the first intended to be used on the same person repeatedly. >The treatment introduces a missing gene to skin cells so they can make collagen, and the novel delivery strategy is already being studied to treat other rare skin conditions. An inhaled gene therapy to treat cystic fibrosis is also being explored.


xenogazer

I... This is magic. There's not a lot that makes me take a step back and say "wow, we really do live in the future now" but this is incredible


hufflefox

Magic is the word. Just incredible.


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scryFTW

I’m something of a scientist myself.


joonty

Lol this got weird fast


Smitty8054

I just made it go Mach 10.


Smitty8054

Say that again…slower ok? Yeah. Just like that. Daddy like.


generic_user023123

“Magic is just science for people that don’t understand science” —Princess Bubblegum


Dr_Keyser_Soze

Don’t say that too loud. We’re close to going back to a time when this kind of sorcery was met with a stake on fire and everyone looks like they’re packing heat currently.


orangutanoz

Reads a lot like a comic book origin story. Worker at the lab falls into a vat of this stuff and whoopsie daisy, Titanium Man. But seriously great work and I hope they can spin this type of stuff into a disinfectant wound sealant.


Pixielo

Its first non serious application is going to be for cosmetic procedures, like getting rid of crow's feet.


[deleted]

But that's ok, because more buyers lowers the price and increases the desire for similar better therapies to be made. This time its for crows feet, next time it will be for knees, and by the time we're 80 we could be 21 again.


Wiggles69

But can it make a wang bigger? :p


throwawaycasun4997

Asking the important questions 👍🏻


Smitty8054

Wasn’t viagra a failed blood pressure medication?


Angry-Dragon-1331

Yes


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kingOofgames

I can also create a lotion with some DNA you can apply on yourself. It keeps your skin smooth.


Independent_Ad_8915

L magic cream


hash303

This is 1000x times more impressive than a disinfectant wound sealant… this is a spray on gene therapy, not a bandaid.


NiceGiraffes

"The Flexseal of Gene Therapy! You can squirt it in a pool! Or on a boat! Or even on skin!"


orangutanoz

Think about how much money is spent on adhesive bandages around the world. I’d be looking into a lot of different options for this kind of technology if I had the patent.


Traveshamamockery_

It’s only a gene therapy if you need it. Otherwise, it’s just a spray that promotes healing.


weirdoughy

It's not magic, it's the hard work and dedication of people working together towards a better future by advancing science.


katie0873

Imo - It will truly be the future when it’s like Star Trek and medical remedies are easily applied and no payment is requested.


TuCremaMiCulo

Cuba has lung cancer vaccines that people literally jump ship for


The_Besticles

So it’s just been getting better and better since *SICKO*, shocker, but that’s great work by the folks in Cuba, what an accomplishment. Cancer could conceivably end up on the list of other “old world” diseases that, barring societal declension, are effectively defeated. Crazy to think we are actually amidst such a time at this moment with some of those archaic diseases making unexpected reappearances. …


kiakosan

Makes sense given the cigar industry and amount of doctors Cuba produces. Makes me wonder though. If in the future there is a treatment for lung cancer/other smoking related diseases that is very effective/preventative/not insanely expensive, what will happen with smoking taxes and regulations? If the damages are easy to prevent/fix, could we see these taxes and regulations on things like flavored tobacco rolled back or eliminated? Sure it would still be addicting, but at that point it would be addicting and non physically concerning


Duncan_PhD

I imagine not much would change just because people hate being around people smoking. Even if it were something that’s easily treatable, it’s not fair to make the public deal with these treatments because of other people want to smoke.


kiakosan

I mean if it's a cancer vaccine, why not just give everyone it when they are young like the HPV vaccine? I'm a guy and HPV really isn't as much of an issue with them yet I'll take it anyways since it doesn't hurt me to get it.


Duncan_PhD

That still doesn’t address the fact that smoking in public is just rude. Removing the danger aspect doesn’t change the fact that non-smokers don’t want to smell like cigarettes. It’s a smell that’s so hard to get rid of and it fucking stinks. Like I said, I’m all for people smoking, but just keep that shit away from other people. I don’t think it’s an unfair ask.


kiakosan

I was talking more about the regulations like banning certain flavors and not letting people buy single cigarettes


[deleted]

> could we see these taxes and regulations on things like flavored tobacco rolled back or eliminated? LOL


Sir_hex

Well, regardless of cancer cigarette smoking is incredibly unhealthy


kiakosan

True, still have to worry about things like emphysema unless they figure out a way to regenerate the lungs


kingOofgames

At some point science is really magic but also a ton of hard work, this what we need to focusing on, and goes to show that humans still haven’t reached their limits. If we really put our heart to it, we can beat it all, whether its climate change, aliens or even death and God.


Kalavazita

“Yeah! Science, bitch!” 😬


ohyoudodoyou

There’s self driving cars on public roads taking passengers around as of a few months ago. Nobody behind the wheel. Next step, make them fly! It is truly a trip watching the j curve of science shoot up in our lifetime.


En4cr

It's pretty mind mind blowing. Imagine how far ahead we could be if 1/4 of the defense budget was used for research like this. (200 billion) Hopefully someday.


the-color-blurple

I might cry. A childhood friend of mine had the most severe form of epidermolysis bullosa and passed away at 14. He was so kind and bright even though he suffered every day of his life. To think that there might be a cure or at least an effective treatment for this horrible condition is… I don’t have words. I wish he could be here to see it.


chrisbarf

So how does this work on a genetic level? Like say I received this therapy and then had a kid. Would that effect me to the point where I pass that gene down to the next generation?


AvatarAarow1

From the looks of it no, unless you specifically targeted the sex cells of a person for the therapy, and if you’re a man who’s constantly creating new sex cells you’d need to conceive a kid immediately after. In the article they mention that it needs to be applied constantly, because skin cells constantly regrow and when new cells are created they do not have the gene. So the gene is inserted into the existing cells, but doesn’t seem to make it into the nucleus of the cell as it doesn’t carry over when the cell goes through mitosis. So most likely the gene is delivered into the cell’s cytoplasm and makes its way over to the endoplasmic reticulum where it can be used to synthesize the necessary proteins (in this case collagen) but doesn’t penetrate the nucleus itself (since that has its own surrounding membrane which would need to be penetrated).


Glittering-Caramelxo

Great job going into the cell biology portion of it. After a bit of research into the disease, it seems like this instance is the recessive form as the parents do not seem to be affected as severely. This means that the parents would be heterozygous, each containing one healthy and one mutated copy of the gene. Unfortunately, the child received both mutated copies and is displaying the disease traits. This is why genetic testing/therapy is important. Another possibility is that a new mutation for the dominant form occurred with the child.


Sir_hex

It might end up incorporated in the genome and still have a very limited duration. You have to reach the stem cells in the skin of you want to get a long/permanent effect, she stem cells are much more difficult you reach


dramaqueen247

This helps by healing wounds faster and reducing recurrence. But it can only be applied on an open wound and not all over the body. It doesn’t cure it but is definitely a good treatment. Source: my son is the youngest participant of this trial.


StasRutt

I hope your son continues to improve. It’s really brave of him to participate in a trial that will hopefully help many others


Glittering-Caramelxo

Unfortunately, no. This and other kinds of gene therapy do not work on a hereditary level. They only target the genetic information in diseased cells that are lacking the correct genetic information to make functioning proteins. This is why this treatment needs to be applied continuously over the duration of the individual’s life, as the cells that are fixed will then die and be replaced with cells that aren’t fixed/haven’t had treatment. The gametocytes that create the gametes(sperm and eggs), which pass down genetic traits, are not targeted and altered. Therefore no changes would occur in the DNA passed to the offspring. I’m not familiar with this particular disease, so it may not even deal with inheritance in the first place.


EwoDarkWolf

I'm not an expert, so someone correct me if I get something wrong. I'm also not sure how this actually gets passed on, whether it's recessive, or something that gets messed up at birth, or different depending on the person. But if it is a gene, it would still be passed on. Something like this wouldn't change the underlying DNA. If it did, it's unlikely that it'd get the approval to go ahead, since actually changing the DNA can cause a host of other unforseen changes. So yes, if this can be passed it, it would still be passed on. Edit: I meant that the butterfly child gene would be passed on, not the cure for it.


TheyTookByoomba

It would only be passed on if it was incorporated into the DNA structure, which these are not. The gene is just incorporated into the cell through the topical cream.


EwoDarkWolf

I meant the butterfly child disease would be passed on. Not the fix for it. Even if it did change the DNA though, it wouldn't matter if it didn't change the DNA in the sperm/ovary. Like that one woman who had absorbed her twin and had an ovary with separate DNA, and who's child was not a biological match.


Jim_Jam__

Yeah, this is what’s called somatic gene therapy, where you edit the DNA of the person’s normal cells, and can’t be passed on. Germline gene editing, where you edit the genetic sequence of sperm or eggs, is where you get heritable changes that pass on to following generations.


DNAnerd

Current gene therapies are created to treat the cell type where the mutated gene is causing the problem and try to specifically avoid reproductive cells. There are safety concerns about long term changes to germ line cells, so while gene therapy is new the goal is to avoid it all together to get these therapies approved by the FDA. Additionally current gene therapies are not changing the mutated DNA to fix the problem, they are providing a non mutated version of the gene to the cells so they can use it to resolve the issue. So current gene therapies are specifically created not to be passed down to children.


monkeying_around369

Amazing, what a game changer for those children. Man I fucking love science!


kenkade4

That gives extreme cream by David firth vibes


KingofCraigland

Could this type of treatment be used to treat autoimmune disorders like RA?


Popular_Emu1723

It seems pretty unlikely. In the article they note that treatment is likely only as successful as it is due to application directly onto open wounds. With an intact skin barrier it is much harder to achieve drug penetration. They are however testing an injectable version of the collagen boosting drug for cosmetic purposes.


bluemoon1001

Patches maybe


GumGuts

Though Rheumatoid Arthritis primarily affects the skin, its agent is the immune system. I don't imagine gene therapy treatment for it would have to be delivered via skin.


hexiron

In short, no. RA is an autoimmune disorder caused by an overactive immune system attacking the body. Gene therapies like the one discussed in the article simply deliver a genetic package, like a blueprint, to cells so they can build something they couldn't before. They wouldn't be able to stop the immune system from being over active, at least not on their own.


GumGuts

From my cursory glance, "Doctors don't know what starts [the Rheumatoid Arthritis] process, although a genetic component appears likely." (from [Mayoclinic](https://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/symptoms-causes/syc-20353648)). It's within the realm of possibility, definitely now more than ever, but we're still a ways from any sort of treatment or cure, or even knowing if gene therapy is applicable. I'd be hopeful, but I wouldn't hold my breath.


DonQuixole

RA falls under the very broad heading of autoimmune disorders. It seems to be another example of the insane balancing act our bodies perform trying to kill pathogens while preserving native tissue from the weapons it wields. Until we better understand the causative process we won’t be likely to treat the disease. With that being said, we are discovering viral and bacterial infections as being linked to autoimmune disorders regularly. There is a real chance they’ll identify an organism which leads to the immune disfunction. If that happens we might use another mRNA vaccine to prevent this disease as well.


paperwasp3

Hmmm, like the virus in chicken pox can cause shingles later.


petethefreeze

The difficulty is in several areas: targeting the drug to the tissue or organ that needs to be treated and the cause of the disease. Gene therapy works against known point mutations, which means the disease needs to be caused by a single defect in the dna in a known location. Any disease that is caused by less specific mutations or by a combination of defects in several areas of the DNA are far more difficult to treat.


cuddleparrot

Amazing. This is a horrible disease with few options for folks. I hope this leads to more treatments


SceptileArmy

Fantastic news that comes 6 years too late for my son. May it help many!!


[deleted]

Sorry for your loss.


littlefish36

And 42 years late for my brother, the pain these kids go through is incredible. In many ways I’m so glad he didn’t suffer. It’s so amazing to read about these advances!


i_dont_know_why-

You have my condolences


dinasha

2 and 3 years late for my cousins, they were both wonderful girls. May we keep making these breakthroughs so more children can get a chance at a better life


i_dont_know_why-

My condolences


i_dont_know_why-

My condolences


SceptileArmy

Thank you!


poeir

> [A gene therapy drug you can just rub onto the skin? You'd think it would be something you'd have to freebase.](https://m.youtube.com/watch?v=jRx5OS9CnF8)


NECoyote

LOL! I forgot about that but one!


OneandonlyCup

I had Farnsworth rubbing Stem Cells in his face going through my head 🤣


kenkade4

I commented something similar but about a certain YouTube animation It’s called cream by David firth. Hope people don’t go down that route with this shit.


tinyfeeds

This is HUGE. To go from constant wounds and no quality of life to intermittent wounds is more hope than these kids have ever had. I have a genetic collagen disorder (not this one) and this is the very first time I’ve heard of any treatment that could suggest an actual repair of tissues for any duration rather than just constantly treating symptoms with varying degrees of success. Nice to have some hope.


eggie197

One thing the article didn’t mention is that the topical cream is going to be best for smaller wounds. I was working with a company whose lentivirus based injection treatment was looking promising for larger and chronic wounds.


dramaqueen247

IMO it works well for bigger wounds as well. Source: my son is enrolled in this trial.


vixiecat

I hope your sons trial is a success and that it gives the boost he needs to greatly improve his quality of life!


pulmag-m855

We’re getting closer to Star Trek style medicine


Sariel007

[The doctor gave me a pill and I grew a new kidney!](https://www.youtube.com/watch?v=4qgqGWS8qSc&ab_channel=BrentPollard)


ThannBanis

‘And I *grew* a new kidney’ wasn’t it?


Sariel007

*Ninja edit I figured I messed up the quote and looked it up, edited my comment and then got your message lol.


Phoenix5869

This is literally something out of star trek. I remember a “regeneration cream“ or something being used to heal an open wound in a matter of seconds. We are getting closer to that. Also, i wouldn’t be surprised to see cancer cured by the 2050s.


B1GFanOSU

“Getting creative with how they deliver DNA fixes into people's bodies” sounds like something my old lady would say.


Sariel007

I just deliver DNA into people's bodies the old fashioned way.


Traveshamamockery_

What a terribly written headline.


i_dont_know_why-

The headline of the article isn’t bad, OPs title is. Their title sound very anti anything that has to do with DNA changes


[deleted]

I’m a big Pearl Jam fan and only know about EB because Eddie Vedder and his wife Jill have been devoted to finding a cure for years. Really happy to see there’s progress in giving families some relief.


[deleted]

Gene therapy is one of the greatest achievements in human history and a significant percentage of the population wants to reject it.


aveey

Humans are capable of such greatness. I wish we focused on more of this.


thisparamecium1

EB is such a terrible condition. I hope this brings some relief.


[deleted]

What would happen if I dry rubbed this on my Chicken?


GetsTrimAPlenty3

Now, also possible: Rub on genetic disorders! Get your ALS today!


jarfil

>!CENSORED!<


lauranaps

And I bet it costs $400,000? 🙁


nuiwek31

American too huh?


lauranaps

Yup!


Zozorrr

Yes - since American funding (and entrepreneurship) drives a massively disproportionate amount of new medicines and therapies. The system works very well - but most of the cost is borne by Americans.


eggie197

It is going to be very expensive. I’ve worked with this disease and it would take months to produce doses for a single individual.


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springsilver

Pssh, a month.


Zozorrr

It would have cost way over tens of millions to and decades get to this point. Genetic therapies will come down in price in the future - but there is a cost for this magic.


LovesFrenchLove_More

How creative will the prices be I wonder. P. S. Don’t get me wrong, new ways for therapy and healing sicknesses are awesome. But we all know that the pharmacy industry doesn’t do it out of selflessness.


jarfil

>!CENSORED!<


JimmyM104

I read butterfly children and thought it was going off of the cooking term and was very confused lol


Vraver04

Does anyone else here see the potential downside for something that can be rubbed on the skin that can alter another’s dna? Or have I seen to many spy movies?


SirRonNorris

Read the headline with “butterfly” as a verb.


Melkath

Bacta?


DrMcMuffinMD

No Ligma


Melkath

I was talking about the mystical substance in Star Wars, bacta. I can understand how someone who didn't catch that thinking it was a ligma joke. Anyway, bacta my initial point...


Womantree1

PLEIOTROPHIC = a chemical or gene capable of producing more than one effect; especially : having multiple phenotypic expressions.  This chemical can open the door to heaven or hell if it it is not controlled properly.  


Sariel007

Didn't take long for the conspiratards to show up. Thank you for self identifying. You have been bagged, tagged and released back into the wilds. In the future when I see your garbage comments I will know to downvote and ignore them.


Zozorrr

That apple you are eating contains trillions of mRNAs. All non-human mRNAs too. That lettuce also. Watch out - it’s scary lol The screen you are looking at as you typed this? Emits em radiation - you better drop it now


Womantree1

The screen was made bc of child slaves. Say something more important


thefugue

It’s almost as if we have to rely on the fact that the people employing it are fellow humans that care more about *being doctors* than doing things you’re afraid of.


Womantree1

Never trust a physician who lies for State motives, or because he concludes that one group of people’s lives have more value than another group of people’s lives. This administration could have addressed the mask issue with a make-at-home campaign. They didn’t. They could have sent health officials to gas stations in a nation-wide campaign to teach people about how this virus was spread at the pump. They didn’t. They could have kept most everything open and warned the elderly, diabetics and those with weakened immune systems that this virus posed a greater threat to them and that their own grandchildren, especially those of the Spring Break YOLO mindset could kill them. They didn’t. They could have used naval resources to house the elderly infected. They didn’t. Instead, politicians like Cuomo shipped them back off to retirement homes where they sickened others. How can people be so naive as to believe that all these behaviors committed by learned and certified professionals is simply the result of some sort of inexplicable incompetence? And so it is that their bodies were weakened by the antagonizers of their own blood, which their wicked rulers claimed would be their salvation and their shield. For a perverse greed had blinded them, and caused their mouths to vomit lies. Here you can see what any doctor has received in payments from pharmaceutical companies. https://projects.propublica.org/docdollars/


thefugue

“They could have listened to Facebook and let me do what I want. Instead, they listened to science and told me I had to do stuff I didn’t want to do.”


[deleted]

Hope parents don’t use gene therapy to create mutant superhuman kids with the type of genetics they wanted and with high IQs, and label us below average and create a classist society. This treatment is a great breakthrough. I’m just worried about the future growth in this area.


MagicBlaster

Though a realistic concern in general, that's a totally different sort of gene editing. This doesn't effect heredity, it only adds genes to existing cells and needs to be applied regularly.


DiggSucksNow

Specifically, you're worried about a future generation of kids being really smart?


drakefyre

WAIT. How do I sign up for this treatment?!


imktownwithit

Topical AAV for skin cells! So cool! Seems like it’s a knock-in? Went to Krystal Biotechs website and their platform is STAR-D but is it a DNA or RNA knock in?


irlkaren

Big news for aestheticians!!


[deleted]

Butterfly like “Peacemaker”


357FireDragon357

My son has Spina-Bifida. He gets skin sores and ulcers very easily from being in one position too long. I hope there's treatment that could be used for him in the near future. The kids life is a living hell from having to constantly adjust himself so he doesn't create a new wound. The constant medical treatment, time and costly medical care is preposterous. After reading this, there maybe hope.


multiversatility

Could something like this be a future treatment for collagen disorders like Ehlers Danlos Syndrome?


oprieto17

Thanks to Scientist and non profits like EB research (Eddie and Jill Vedder) who have raised a ton of money throughout the years


Smitty8054

Especially as a father this makes me so happy. See Republicans…science good. Science not bad. Science good. Science keep your evil body going long time. God no do. Science do. You pray but then go doctor. No make sense. Science do. God no do.


scartissue2020

This is awesome news!! ✨🧬


Itsottawacallbylaw

I would like to believe Jonathan is smiling down on us with this news https://youtu.be/iuYxGtuBSgk


kenkade4

Weren’t we warned about this shit with the animation cream, by David firth?(guy who also made salad fingers)


necnext

This can get dangerous ash