6 ms·
Scientists edited genes in a living person and saved his life
Paper: https://www.nejm.org/doi/full/10.1056/NEJMoa2504747 https://www.nejm.org/doi/full/10.1056/NEJMoa2504747
- gavinray 9mo ago"Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease" https://www.nejm.org/doi/full/10.1056/NEJMoa2504747 https://www.nejm.org/doi/full/10.1056/NEJMoa2504747
- lysace 9mo agoFrom the paper: "After regulatory approval had been obtained for the therapy, ..." Are the documents relating to this FDA (?) approval application public? I'm curious about where the current boundaries lie and how the process works.
- qnleigh 9mo agoWhat enabled this treatment to be used now? Gene editing techniques have existed for a long time, but there were many reasons why they weren't being used in humans, like concerns about off-target edits and heritability. The article mentions something about gold nanoparticles, but this aspect was developed over the course of a few weeks, and in any case these aren't new either.
- directevolve 9mo agoWell, CRISPR-Cas9 as a tool for genetic engineering was only invented in 2012. A 13-year translation timeline is not unusual, maybe even unusually fast. CAR-T cell therapy for cancer took 30 years from discovery to clinic. It took about 30 years to go from the early attempts to use engineered lipid nano particles for drug delivery to the first FDA-approved medication using them, doxil. With CRISPR, it took a long time to figure out how to reliably edit just the gene you want and acceptably minimize off-target edits, including by delivering the therapeutic to just the organ affected and getting the dose and release right. The public is understandably leery about experimental medical techniques. If they had killed this newborn child with CRISPR therapy, then it might have set created a backlash delaying translation of this technique for years, possibly decades. In biomedicine, we’re always looking for therapies that approximate the level of precision control available in software. Unfortunately, it’s never more than an approximation, and our ability to measure and predict the size of that error is always limited. That is why the field moves slowly.
- qnleigh 9mo agoI mean to ask 'why now?' not 'what took so long?' What about the regulations or the science let this happen now, and not 5 years ago or 5 years into the future? Also do we know that this was CRISPR?
- directevolve 9mo agoYes, CRISPR’s mentioned in the article. Someone should write a book about it to break down the history leading up to this accomplishment.
- rolph 9mo agoYes, This was a CRISPER technique. https://www.chop.edu/news/worlds-first-patient-treated-personalized-crispr-gene-editing-therapy-childrens-hospital https://www.chop.edu/news/worlds-first-patient-treated-perso...
- hirsin 9mo ago
- dlcarrier 9mo agoThere was a guy on YouTube who genetically engineered himself to gain lactose tolerance. (https://www.youtube.com/watch?v=J3FcbFqSoQY https://www.youtube.com/watch?v=J3FcbFqSoQY) It lasted for around a year and a half (https://www.youtube.com/watch?v=aoczYXJeMY4 https://www.youtube.com/watch?v=aoczYXJeMY4) before the effect mostly wore off. He took it orally, so it only affected his intestinal lining, and I presume it didn't effect enough stem cells to get a permanent effect, but it would still be usable as something taken annually, which is still far less often than any medication.
- pinkmuffinere 9mo agoWow this is amazing. Definitely the best biology video I've seen. Edit: this is cool enough to deserve it’s own post, Im going to submit it: https://news.ycombinator.com/item?id=46405855 https://news.ycombinator.com/item?id=46405855
- amelius 9mo agoAgreed. If this isn't hacking then I don't know what is.
- c1ccccc1 9mo ago̶I̶ ̶t̶h̶i̶n̶k̶ ̶h̶e̶ ̶a̶c̶t̶u̶a̶l̶l̶y̶ ̶g̶e̶n̶e̶t̶i̶c̶a̶l̶l̶y̶ ̶e̶n̶g̶i̶n̶e̶e̶r̶e̶d̶ ̶h̶i̶s̶ ̶g̶u̶t̶ ̶b̶a̶c̶t̶e̶r̶i̶a̶ ̶r̶a̶t̶h̶e̶r̶ ̶t̶h̶a̶n̶ ̶a̶n̶y̶ ̶o̶f̶ ̶h̶i̶s̶ ̶o̶w̶n̶ ̶c̶e̶l̶l̶s̶ ̶t̶h̶e̶r̶e̶,̶ ̶r̶i̶g̶h̶t̶?̶ EDIT: Above is false. Went back and checked and I had mis-remembered the video.
- pinkmuffinere 9mo agoFrom the video, it sounds like he engineered his own cells. Using a virus that is known for transferring genetic material into other organisms, he added a gene for producing lactase, and then ate it. I suppose that would affect both his gut bacteria and his own cells. But it lasted for ~1.5 years, which probably indicates that it truly was his cells. Also he seems to know what he's talking about, and he claims it was his own cells.
- gigatexal 9mo agoWhat worries me is the attacks on universities and the breaking of public private research based on this comment from the article: "In a race against time, scientists and doctors across the U.S. developed the first in vivo gene therapy, thanks to decades of medical research."
- EthanHeilman 9mo agoWith Trump it appears a window is closing on the development of important technologies and research. I doubt we will enter a new dark age, but in some areas, progress is likely to slow, which in turn will be used as evidence that it isn't worth funding, which will cause funding cuts and result in even slower progress. Everyone is racing to get stuff done, because there might not be the money tomorrow. It seems likely to me that longer term, more ambitious projects are probably being sidelined because there isn't time to complete them before the pencil pushers in the whitehouse defund them. Look at how the Nixon administration and congress gutted NASA. It took nearly 40 years to crawl out of the hole in the roadmaps that their shortsighted stupidity created. We could have had reusable rockets, aerospike engines and Nuclear Thermal Propulsion in the early 1980s. Instead we got halfway measures like the space shuttle and the ISS that both ate budget but didn't create the required innovation for lower cost to orbit.
- Alex2037 9mo ago[dead]
- gigatexal 9mo agoI couldn’t have said it better myself. They will use this to say not productive don’t fund.
- nyc_data_geek1 9mo agoMy feeling is that rather than a snuffing out, we are witnessing a passing of the torch of the light of progress. Better start learning mandarin.
- 9mo ago
- jacquesm 9mo agoYour genes seem to be out of date, there are several security updates pending. The download will be 3.2 Gb and will take about 3 seconds..... Because this is a security update you can not refuse it. If you are commanding a vehicle park it now or switch to autopilot. Commencing update in 10, 9, 8, ...
- bflesch 9mo agothe good old days when updates actually improved product quality :)
- cgh 9mo agoI updated to version 10.5.7 and now I see Samsung ads in my peripheral vision, wtf
- jacquesm 9mo agoYou're the lucky one... they're a/b testing this and I get them flashing full size for a half second twice a day. I've tried blocking them at the firewall but their AI is so good now it can hack that in a couple of seconds, and they're using what I've seen as input to their bypass. It won't be long before we won't be able to turn it off at all. Joe Jackson saw it coming... https://www.youtube.com/watch?v=GgqwdYAmoFQ https://www.youtube.com/watch?v=GgqwdYAmoFQ
- amelius 9mo agoI am now nicotine addicted without smoking a single cigarette.
- msla 9mo agoDirect link to downloadable paper: https://pmc.ncbi.nlm.nih.gov/articles/PMC12713542/ https://pmc.ncbi.nlm.nih.gov/articles/PMC12713542/
- probe 9mo agoVery dumb question, but how exactly does gene therapy work in vivo? Don't you have to modify every cell (or affected type of cell) with a new copy of the DNA? How does that actually.... happen?
- flobosg 9mo ago> Don't you have to modify every cell (or affected type of cell) with a new copy of the DNA? It depends on the specific disorder that’s being treated. For some of them, targeting a fraction of the affected cells is enough to get the desired effect.
- rcxdude 9mo agoIf the affected protein is actively causing problems, then you'd need to get most of the cells. But if it's just inert and not doing its job then you only need to get enough cells to get the production of the right version up to a somewhat functional level.
- tsoukase 9mo agoIt's like trying to persuade enough people (cell) to change their mind so a social revolution takes place (cure). The argument (gene vector) must be very popular.
- ChrisArchitect 9mo agoStory from May; Discussion then: https://news.ycombinator.com/item?id=43997636 https://news.ycombinator.com/item?id=43997636
- avoutos 9mo agohttps://pmc.ncbi.nlm.nih.gov/articles/PMC12713542/ https://pmc.ncbi.nlm.nih.gov/articles/PMC12713542/ (without paywall)
- SilentM68 9mo agoThat's promising. Where do I sign up? I need my entire DNA code reprogrammed :)
- polishdude20 9mo agoHo does one just summon a group of highly skilled researchers to help out a baby? Like, how did these researchers get paid?
- octoberfranklin 9mo agoThe facts of life... to make an alteration in the evolvement of an organic life system is fatal. A coding sequence cannot be revised once it's been established. Why not? Because by the second day of incubation, any cells that have undergone reversion mutation give rise to revertant colonies, like rats leaving a sinking ship; then the ship... sinks. What about EMS-3 recombination? We've already tried it - ethyl, methane, sulfinate as an alkylating agent and potent mutagen; it created a virus so lethal the subject was dead before it even left the table. Then a repressor protein, that would block the operating cells. Wouldn't obstruct replication; but it does give rise to an error in replication, so that the newly formed DNA strand carries with it a mutation - and you've got a virus again... but this, all of this is academic. You were made as well as we could make you.