[HN Gopher] First gene therapy for Tay-Sachs disease successfull...
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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.
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