111–120 of 133 posts
One of my mom's best friends when I was a kid had Huntington's. She was a few years older than mom, and her sons were a few years older than my brother and I. One of them chose to get tested. The other chose not to. I remember thinking that was foolish, but I was seven years old. In retrospect, it's strange that a seven-year-old was privy to such things.
Huntington's is among the best candidates for a genetic cure: well known gene and mechanism, definitive pre symptomatic diagnosis, slow progression. But I am still reluctant. It's phase 1/2 (ie exploratory) and the phase 3 is the hard part that takes many years. Also it's disease slowing not stopping.
Typical gene therapeutic approaches probably wont work, e.g. Cas9 (you'd need two cuts to delete the sequence), Base editors (cant delete sequence), prime editing (deletion is too large for standard prime editing).
You'd either need a template based system such as homologous recombination (too inefficient) or something like twin-prime editing, but good luck getting that to work on repeat sequence.
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.
Quick skimmed, is there a peer reviewed paper?
The risk is that someone else sensationalises the story on your behalf and you don’t get to temper expectations with facts. I think the British researchers did that quite well in the BBC interview yesterday.
Huntington's is among the best candidates for a genetic cure: well known gene and mechanism, definitive pre symptomatic diagnosis, slow progression. But I am still reluctant. It's phase 1/2 (ie exploratory) and the phase 3 is the hard part that takes many years. Also it's disease slowing not stopping.
Huntington's should be low-hanging fruit for gene therapy, at least in theory: monogenic, fully penetrant, good biomarkers, and a long diagnostic runway
"If one of your parents has Huntington's disease, there's a 50% chance that you will inherit the altered gene and will eventually develop Huntington's too." Have they never heard of genetic diagnostics? For example with a combination of preimplantation generic testing and in-vitro fertilization you can prevent passing on known genetic mutations to the next generation.
Keep in mind that this isn't a so-called "incompatible with life" genetic issue. People with the defective gene can live asymptomatically into middle age. I've lost multiple family members to HD, and have multiple living with HD today. I would give just about anything to spare them from the effects of the disease. But should we decide, moments into a human being's life, that because they carry this gene, it invalidates their entire existence?
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 laun…
There's little money to be made with HD. It's a 1 in 30,000 disease. There's been little reason for anyone other than state sponsors to support its treatment. Add this to the reason's to be disgusted by capitalism. Spoken as a widower of an HD wife.
I just would like to say that it's not capitalism that decides if money is invested in a disease or another but just the individuals operating freely in the market. On the other hand Capitalism has been actually the main driver for the massive investments that enable the expensive research in biomedical topics.
It’s unfortunately normal that conditions with very low prevalence, receive less private investment than diseases that affect millions of people. That’s not because of a moral failing of capitalism, but a result of free market and the free decision of the population on where to allocate their resources. Imposing anything else on people would actually be the real moral failing, because what is the right allocation of resources between technological development, investments about hunger, medical development or just leisure? Let each individual decide for themselves and of course feel free to convince anyone to invest in what you consider priority.
So I think the fairest system is the one where individuals remain free to choose how to invest their time and money, while society as a whole can still decide, for example through philanthropy, to give extra support to areas some areas like rare diseases.
Said that, if you know of any organization supporting HD research that deserves any type of donation please let us know here so we can support it voluntarily.
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 laun…
> 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 frien…
The (mostly American) public pays their salaries; it's not that odd. The public elect the government (mostly the US government) that distributes the funds. The US voter in general has just got tired of living in the "worst place in the world" while also funding the majority of the world's science and health breakthroughs, I think.
Earlier quoted context omitted.
I chose not to get tested when the test was new. I still haven’t, but I feel confident I dodged the bullet based on my age vs my relatives’ age of onset. I used to wonder if I could take the news of having HD. Now I wonder how life would have been different knowing for sure I don’t have it.
How did you live differently knowing it was a possibility? It must have always been a shadow lurking nearby?
Knowing I could become sympathetic at any point made me more conservative in my career. Once that happened I would have less than five years of earning left. As a kid I wanted to start a business [1], but that was always too risky. Instead I’m the guy who actually considers the employer life insurance options because there’s no way anybody will insure me on my own. I’ve worked at a couple of late stage startups, but I’ve never been part of the early days where payroll is on the line every month.
This could have been mooted by a genetic test at any point. My wife, brother and mother thought I shouldn’t get tested. They’re the ones who know me the best, so their unanimity was influential. But it was my decision all along and I own it.
[0] In hindsight the fact that I never actually acted on a violent impulse should have been reassuring instead of worrying)
[1] what a nerd