[HN Gopher] First gene therapy for Tay-Sachs disease successfull... ___________________________________________________________________ First gene therapy for Tay-Sachs disease successfully given to two children Author : daegloe Score : 95 points Date : 2022-02-20 18:40 UTC (4 hours ago) (HTM) web link (theconversation.com) (TXT) w3m dump (theconversation.com) | LegitShady wrote: | Hopefully this is long term successful and the first step in | curing a lot of conditions like this. | mym1990 wrote: | If you're interested in learning more, the book Code Breaker is | a great background to some of the steps that were taken to get | us to where we are today! This work has been decades in the | making :) | drran wrote: | beams_of_light wrote: | >We were able to deliver these treatments to the children in our | ongoing clinical trials thanks only to funding from a generous | family whose own child is a participant. | | Wish this were not the case. | hammock wrote: | Shared404 wrote: | From https://news.ycombinator.com/newsguidelines.html : | | > Please respond to the strongest plausible interpretation of | what someone says, not a weaker one that's easier to | criticize. Assume good faith. | halukakin wrote: | Wish governments would spare funding to these research efforts. | mym1990 wrote: | It's weird to say 'only' since I assume that a lot more went | into this effort other than funding. There are a lot of | initiatives that have a lot of funding, but little success. | Either way, this result is certainly better than nothing, or | waiting years/decades for public funding. | BurningFrog wrote: | I expect most of the cost is regulatory. | | Lighter regulation around rare "small market" diseases might | save a lot of lives. And money. | soldehierro wrote: | > Lighter regulation around rare "small market" diseases | might save a lot of lives. And money. | | Orphan drugs for rare diseases are already subject to less | regulation. | bckr wrote: | I think it's okay to express this, but would be more valuable | if you added more to the conversation e.g. what you positively | desire. | inglor_cz wrote: | Rare diseases need some public funding. Not only for ethical | reasons, but we may also find out very nontrivial things | about our own biology this way. | loeg wrote: | They have _some_ public funding. | bckr wrote: | This is incredibly moving. It can feel like there's no good news | in the world, and that techno-optimism isn't founded. | | But these 2 kids are a lot healthier than than they would have | been without this incredible invention. This is the kind of stuff | we can hold on to. | | Thanks for sharing. | ch4s3 wrote: | They would die otherwise, painfully I might add. Gene therapy | is posed to be a revolution that makes antibiotics look like | band aids. | DaveExeter wrote: | These two children should have never been born. No one should | be born with Tay-Sachs, a genetic disease. | chaostheory wrote: | It's good news, but it doesn't mean that there still aren't | more challenges to overcome. | | I think the article ends on a really important note: | | "The increasing cost of manufacturing these treatments makes it | extremely difficult, if not impossible, to develop and test | gene therapy for many ultrarare diseases where the number of | patients worldwide is very small and profitability low. | | We were able to deliver these treatments to the children in our | ongoing clinical trials thanks only to funding from a generous | family whose own child is a participant" | IMAYousaf wrote: | I don't have anything to add except that for some reason, I | viscerally remember the first time I heard of Tay-Sachs disease | in a high school classroom through a video about genetics. | | Something made me feel so disturbed about this one disease above | all else because of the seeming hopelessness of the situation | coupled with the rampant cruelty of how it kills kids from the | inside and seemingly reverses developmental progress. | | I don't know why I just remember the moment I learned about this, | but this is great news. Hopefully this is the first in many such | therapies. | CoastalCoder wrote: | I was a little surprised that the researcher talked only about | stopping disease progression, rather than reversal. | | Especially for the 7-month old. I assumed that at that age, the | brain was still growing / adapting in ways that could work around | the earlier problems. | | But now that I think about it, I've heard that oxygen deprivation | during birth can cause permanent impairment. | halukakin wrote: | Reading the article, I'm not seeing much info on how the | results were 7 months old in terms of brain development. At | that age, one would expect brain development to improve. I hope | the researchers discuss this in more detail in future news. ___________________________________________________________________ (page generated 2022-02-20 23:00 UTC)