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Medicine Science

The Rarest of All Diseases Are Becoming Treatable (msn.com) 39

In February, a six-month-old baby named KJ Muldoon became the first person ever to receive a CRISPR gene-editing treatment customized specifically for his unique genetic mutation, a milestone that researchers say marks a turning point in how medicine might approach the thousands of rare diseases that collectively affect 30 million Americans. Muldoon was born with a type of urea-cycle disorder that gives patients roughly a 50% chance of surviving infancy and typically requires a liver transplant; he is now a healthy 1-year-old who recently took his first steps.

The treatment's significance extends beyond one child. Scientists at UC Berkeley's Innovative Genomics Institute and the Children's Hospital of Philadelphia are now planning clinical trials that would use Muldoon's therapy as a template, tweaking the molecular "address" in the CRISPR system to target different mutations in other children with urea-cycle disorders. Last month, FDA officials Marty Makary and Vinay Prasad announced a new drug pathway designed to accelerate approvals for such personalized treatments -- a framework inspired in large part by Muldoon's case. Current gene-editing delivery mechanisms limit treatments to disorders in the blood and liver. Many families will still go without bespoke therapies.
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The Rarest of All Diseases Are Becoming Treatable

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  • by merauder128 ( 9973552 ) on Tuesday December 09, 2025 @12:36PM (#65845911)
    It's very nice to see more and more illnesses being treatable with advancements in science and also disheartening to see others trying to take your country back to the middle ages.
    • Re: (Score:2, Insightful)

      by Anonymous Coward

      One of the major advances, outlined in this Wired story [wired.com], involves personalized creation of mRNA vaccines to treat cancer

      This is made possible by identifying differences between the cancer, and the person's normal DNA, then creating a mRNA vaccine that tunes the body's immune system to attack the cancer.

      Unfortunately, this requires a regulatory system that recognizes the validity and safety of mRNA vaccines in order for it to be covered by insurance

      The path we are on right now, will ONLY ensure this treatmen

      • Until there is some super-automated AI pipeline to identify novel neoantigens purely from cancer DNA with no human needed in any of the millions or billions of required steps, truly personalized mRNA vaccines seem intractable to me. Identifying antigens on the outside of the cancer cell from DNA alone is very difficult indeed.

        The only tractable personalized vaccine in the short term is much much simpler, just use the tumor cells and forget about the DNA.

        • by ceoyoyo ( 59147 )

          It's not particularly difficult to determine the protein that a bit of DNA codes for. It's more difficult to figure out which of those are going to be reasonable antigens to target, but you don't really have to. Cancer cells aren't unknown pathogens, they're regular old human cells with mutations.

          You don't need to do that either though. Cancer mutations aren't infinitely diverse. "Personalized medicine" sounds like a treatment just for you and you alone, and maybe in a Star Trek future it will be, but in th

      • by backslashdot ( 95548 ) on Tuesday December 09, 2025 @02:26PM (#65846327)

        There's no reason for this to be expensive. I've made CRISPR nanoparticles and mRNA vaccines for research purposes. I can tell you the process is simple enough that a person with good financial means can make these himself in a garage with below $150k of capital expenditure. Note .. it can be done for under $60k too in a crude manner. I put $150k because you'd want a machine called an FPLC for purification purposes, freezers, and maybe a DLS. Now before that asshole who always argues with me shows up, it's DIY and isn't going to meet GMP-certification standards. I reckon you could meet GMP standards for under million .. because the only difference is that you need more analytics and you have to hire people to watch and sign documents. (Note: I haven't much experience with that aspect.)

        • There's no reason for this to be expensive.

          Based solely on material and operational costs, most drugs should be much cheaper than they are. The big difference is the profit motive in the absence of a truly free market. If there were sufficient suppliers who were free to compete by lowering prices, then prices might be reasonable or affordable. However, often suppliers with either government connections or who can erect other market barriers can prevent competition. This is the paradox of competition, that competition often leads to actions to in

          • by ceoyoyo ( 59147 )

            The big difference is the profit motive in the absence of a truly free market.

            The big difference is the requirement to test them to make sure they work. It's expensive, and most candidates fail.

            This is potentially the biggest strenth of a vaccine approach. According to the Internet the flu vaccine costs my government an average of $5.43 cents. Individuals can get it for under $100 in most parts of the world where you have to pay the full cost. The reason it's not stupid expensive, being a new drug with nove

      • One simple trick: don't call it a vaccine. Call it an immune system booster. Bonus points: formulate it with a little bit of stearic acid (beef tallow) in with the other lipids.
  • by Tablizer ( 95088 ) on Tuesday December 09, 2025 @12:48PM (#65845969) Journal

    ...going to fly to CRISPR Island and have their genes edited for a bigger dick, longer jiz, bigger tits, etc.

    • by kqs ( 1038910 )

      Sure, plus faster reflexes, bigger muscles, maybe cat ears and tail. The wealthy will always get a disproportionate share of the pie. But as long as those who need this tech can get it (which includes both "availability" and "affordability"), that's okay.

      There is a danger of a Gattaca world, but there is always a danger of a dystopia. I could wish that fewer Americans would be cheerfully voting for dystopia to "own the libs" or "stop woke" or something moronic like that, but whatever.

    • by alvinrod ( 889928 ) on Tuesday December 09, 2025 @04:10PM (#65846635)
      What's your point. Once upon a time the wealthy were installing indoor plumbing and fancy water closets while everyone else was still using outhouses or chamber pots. They subsidized the capital expenses necessary to for various businesses to offer their goods and services and refine the invention to make it better, less expensive, and more widely available. It was the same for automobiles, computers, and just about anything else you might care to name. Why would you expect it to be any different here?
  • by Anonymous Coward

    Cure Crohn's please

    • There's people with Crohn's who have gone on the carnivore diet and said they were able to stop getting Remicade. I don't have Crohn's so I can say how true those claims are, but I'll say it's worth looking into. Theoretically since it's immune related, hypnosis should have an effect on it as well, but I haven't researched that angle. Hypnosis is oddly good at dealing with immune related issues, you can cure your allergies using it.

      (I have a relative with Chron's. She's not interested in trying carnivor

  • by PCM2 ( 4486 ) on Tuesday December 09, 2025 @02:56PM (#65846429) Homepage

    Meanwhile, the most preventable of diseases are becoming commonplace.

    • This is a self-correcting problem for any detrimental behavior in the long term. I know it tears some people up inside, but let others make their own decisions freely and allow them to deal with the consequences of them. You can't reason someone out of a position that they did not use reason to arrive at in the first place. Sure, some people will never learn to quit touching the stove, but many other people can learn from their misfortune.
      • It's only self correcting when the signs are highly visible and visible before the infectious period starts. For an example, I won't be surprised if HIV rates start going back up despite us being able to control transmission now.

  • It will be anti-christian, witchcraft and a very dangerous vaccine.
    If you can not pray it away, it is EVIL /S

    Just wait until they decide it interferes with "gods plan" and that THEY have the right to control YOUR life..... just like women healthcare .

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