Huntington's disease treated for first time
33 comments
·September 24, 2025karmelapple
jmcgough
> Scientists need better messaging or else we're going to stop having breakthroughs like this
Sure, but it's really sad that scientists need to justify their funding to the public - they already spend so much time justifying it to the NIH and others for funding.
So many people have had their careers jeopardized by finding pulled mid-project. I am really concerned about our research pipeline, because my post-doc friends are all applying to jobs outside the US now.
amelius
It's standing on the shoulders of giants, and the one on top gets to reap all the benefits.
oulipo2
I'm pretty sure some of it is direct funding by governmental agencies, but even if that wasn't the case, all the basis of the theory, and the groundwork was laid by researchers and universities using those grants. You need public money for a healthy society
OskarS
This is incredible, what a miraculous thing for sufferers and their families. Feels rare to see such a such an unquestionably good news story these days.
ksajadi
This is off topic, slightly but I think a good place to say this:
I wish the media outlets would mention the fact that at least one of the scientists in this post is an immigrant in the UK. (in this case I’m not sure 1st or 2nd gen)
In the current climate of anti-immigrantion rhetoric around the world, simple things like that might help a little with the perception of immigrants as freeloaders.
Just a thought.
mjburgess
This seems helpful, but I think the misattribution of a general "anti-immigrant" sentiment to immigration detractors is part of the problem.
Very few detractors in the west have any issues with highly qualified immigrants occupying scientific or research roles. Being opportunistic with which kind of immigrants one offers as Good is partly what's aggravating the issue. It's a radical kind of dismissiveness and denialism which is provoking people and ignoring their issues.
The broad western detraction against immigration at the moment is targeted at specific waves of mass immigration with specific compositions that have specific effects on the places those immigrants have landed.
People are primarily concerned about the ability of state, social and corporate institutions to absorb immigrants at this pace and scale without significant zero-sum effects. And, in addition, the significant amount of state support segments of those populations (eg., esp. asylum seekers) have to receive at a time when gov. are under inflationary pressures, debt pressures, etc. and cannot service their own welfare obligations.
Going, "oh but we get good cancer research from immigration!" is so dismissive to these concerns, that the backfire against this messaging is one of the major contributors to people's disaffection.
The idea that people need to be told that there are people who want to immigrate that are in our national interest to absorb, is just plainly absurd. This is uncontroversial and obvious.
Hasz
I strongly disagree with this. While I am generally pro-immigration, injecting a political view into an article ostensibly about a new scientific discovery is how science loses credibility and objectivity. See the "trust the science" phrase weaponized during COVID in the US.
Let people draw all the inferences they want about the origins of the scientists involved, but a hamfisted paragraph about a.b scientist being an immigrant from y country does not have a place here.
whatsupdog
Also it sends a message that only scientists are welcome as immigrants. There's millions of immigrants who contribute positively to the society, who aren't scientists.
siva7
Medical progress has been insane in the last few years through technological breakthroughs. It's not out of reach to think that most types of cancers will be curable 20 years from now on.
calewis
I think its like WW2, loads of amazing tech came from war. Covid was a bit like that for bioTech.
petesergeant
More information on the approach: https://www.uniqure.com/programs-pipeline/huntingtons-diseas...
> AMT-130 consists of an AAV5 vector carrying an artificial micro-RNA specifically tailored to silence the huntingtin gene, leveraging our proprietary miQURE™ silencing technology. The therapeutic goal is to inhibit the production of the mutant protein (mHTT)
and the actual announcement: https://uniqure.gcs-web.com/news-releases/news-release-detai...
> 75% slowing of disease progression as measured by Unified Huntington’s Disease Rating Scale (p=0.003)
> 60% slowing of disease progression as measured by Total Functional Capacity (p=0.033)
> 88% slowing of disease progression as measured by Symbol Digit Modalities Test (p=0.057)
> 113% slowing of disease progression as measured by Stroop Word Reading Test (p=0.0021)
> 59% slowing of disease progression as measured by Total Motor Score (p=0.1741)
saretup
What does 113% slowing mean? I thought if the speed is x then 80% slowing means the speed is now 0.2x
nicoburns
Perhaps it means the effects of the disease are actually reversed?
tkfoss
"The data also shows the treatment is saving brain cells. Levels of neurofilaments in spinal fluid – a clear sign of brain cells dying – should have increased by a third if the disease continued to progress, but was actually lower than at the start of the trial."
bjornsing
Why does it have to be delivered through brain surgery?
Sebalf
The major hurdle of current gene therapies is delivery to the tissue where the defective gene product is causing damage. For instance lipid nanoparticles are only being used to deliver gene therapies to the liver, because if you inject them they just end up there and not much anywhere else. In this case they are using an virus called "adeno asociated virus 5" (AAV5), which does not naturally infect the brain AFAIK. The blood brain barrier (basically just extra impermeable blood vessels), as well as other immunological features in brain tissue, evolved specifically to keep the brain as unaffected as possible from anything bad going on in the body, seeing as any infection/poisoning of the brain is varying degrees of catastrophic and would easily kill you in the ancestral environment.
I don't know the details of why AAV5 in particular is their vector of choice in this case, but for whatever reason thats what they've gone with. AFAIK there are no viral or other vectors that consistently infect all brain tissue when injected/ingested, so maybe that's just the best option available. Anyways, it seems that in order to get it to the actual brain tissue that is damaged by the huntington protein (all of it? One particular area?), the best way is to inject it where it needs to go. If you could just pump it into the CSF that would perhaps make things a little bit more tolerable, seeing as you could then just do a spinal tap and inject it that way, but apparently that doesn't work. Or maybe a generalized AAV5 infection has more side effect then targeted injections. Just speculating here.
bjornsing
I guess it needs to get across the blood-brain barrier. But that shouldn’t take 10+ hours of surgery, I don’t think.
jmcgough
The brain-blood barrier typically only allows small, non-polar molecules to pass through into the brain, which complicates a lot of neuro/psych treatments.
adcoleman6
I’m assuming the viral vector can’t pass the blood-brain barrier.
bjornsing
But it doesn’t take 10+ hours to surgically get a virus across the blood-brain barrier, right?
JoshTriplett
Guessing: bypassing the blood-brain barrier.
null
basisword
What do those progression numbers mean in terms of outlook? For example, if someone is treated before showing symptoms (as they know they inherit it) is the progression slowing enough to give them a normal life expectancy and quality of life?
CookiesOnMyDesk
It’s covered in the article
>It means the decline you would normally expect in one year would take four years after treatment, giving patients decades of "good quality life", Prof Sarah Tabrizi told BBC News.
>The first symptoms of Huntington's disease tend to appear in your 30s or 40s and is normally fatal within two decades – opening the possibility that earlier treatment could prevent symptoms from ever emerging.
didgeoridoo
I don’t think this quite answers the curiosity of whether starting treatment e.g. at birth would virtually eliminate morbidity, or whether it only slows the decline once it has started.
Consider that the disease typically manifests in your 30s — does this mean it would begin 4x later (and thus basically never manifest), or that your 15 year progressive decline from ~35-50 would take 4x longer (giving you a normal lifespan, albeit perhaps with some limitations in your later years)?
goatherders
Wow. Just an incredible medical development
tomrod
Quick skimmed, is there a peer reviewed paper?
mbreese
I don't see one yet -- but the main people mentioned in the article have a long publication record on Huntington's. This trial has been going on for a while and this is an interim media report. I don't think they've reached an endpoint yet.
I believe this is the clinical trial they are reporting on: https://clinicaltrials.gov/study/NCT04120493
This trial also appears be open at UCSF...
jmclnx
This needs to be said, with Trump's cutting of College Basic Research Funds, many of these great breakthroughs will occur in other Countries. The US is/was the lead in biotech, it is now giving up its lead. That means one of the US largest industries, employing many with high pay, will shrink, due to US policies. In a few years it may not exist unless funding is restored soon. I personally know people who's grants have been cancelled due to these cuts.
But, glad to see other Countries funding their research. I wonder in face of one of the largest blunders made by the US, are they increasing funds ?
What part of this discovery was made thanks to NIH and/or NSF funding from the USA, or the NIHR in the UK?
I don't ask to strictly bring up politics, but instead to try and address the broad lack of understanding of how medical breakthroughs like this are made.
It's not done just by drug companies. The article says:
> UniQure says it will apply for a licence in the US in the first quarter of 2026 with the aim of launching the drug later that year.
That's true, but that doesn't talk about the tens to hundreds of research papers that have been published over likely decades to make this discovery a reality. And it doesn't talk about how much public money went into this discovery.
Many people reading this article probably have a vague idea that more than just this company was involved, but I feel it is not at all clear to the vast majority of people, since the vast majority of people are not involved in biomedical research.
I wish there was an easy way to figure out how many dollars, how many grants, how many researchers, went into achieving this breakthrough. And that the media would put that into news articles like this. Trace all the citations back a few orders, and I bet you'll find a massive number of NIH and NIHR grants.
There is unfortunately not more massive, bipartisan public outcry in the US over defunding the essential basic research the NIH does... and it's not new to the current administration, since it was attempted to be done back in 2017, too [1].
Scientists need better messaging or else we're going to stop having breakthroughs like this... and the breakthroughs are already going to slow down thanks to things like the $783 million in cuts to NIH grants that the US SCOTUS authorized in August [2].
1. https://pmc.ncbi.nlm.nih.gov/articles/PMC5468112/
2. https://www.scotusblog.com/2025/08/supreme-court-allows-trum...