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posted by cmn32480 on Tuesday November 14, @01:33PM   Printer-friendly
from the medicine-is-amazing-stuff dept.

Gene therapy's new hope: A neuron-targeting virus is saving infant lives

Evelyn's older sister Josephine had spinal muscular atrophy type 1 (SMA1), a genetic disease that gradually paralyzes babies. She died at 15 months. Evelyn was an unexpected pregnancy, but her parents decided to have the baby despite one-in-four odds of a second tragedy.

Soon after Evelyn was born in December 2014, they were devastated to learn from genetic testing that she, too, had SMA1. "We knew what we were dealing with: We'll love her for as long as we can," says her father, Milan Villarreal. But that same night, frantically searching the internet, they learned about a clinical trial in Ohio and sent an email. At 8 weeks old, Evelyn received a gene therapy treatment that gave her body a crucial missing protein.

And now here she is, not so different from any healthy toddler. Although she has weak thighs and can't run normally or jump, she can walk quickly, dance, trace letters, toss foam blocks, carry a small chair, and climb onto her mother Elena's lap. After the heartbreak of losing their first baby, the Villarreals have watched in amazement as Evelyn has crawled, walked, and talked. "It was just a miracle. Every milestone was like a celebration. We opened a bottle of wine for every little thing she did," Milan says.

The results of the trial Evelyn participated in have blown away gene therapy researchers, too, marking one of the once-troubled field's most dramatic successes yet. All 15 babies treated for SMA1, expected to die by age 2, are alive at 20 months or older, and most can sit up, according to a report this week in The New England Journal of Medicine (NEJM). Like Evelyn, one boy is walking. Although a drug recently approved for SMA1 has achieved similar effects, it must be injected into the spine every 4 months. The gene therapy is intended as a one-time treatment, and it is simply infused into a vein. "I've never seen an effect [of gene therapy] that good in a lethal disease," says neurologist Jerry Mendell of Nationwide Children's Hospital in Columbus, who led the recent trial.

Spinal muscular atrophy.

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy (DOI: 10.1056/NEJMoa1706198) (DX)

Related: Antisense rescues babies from killer disease (DOI: 10.1126/science.354.6318.1359) (DX)


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  • (Score: 1, Insightful) by Anonymous Coward on Tuesday November 14, @02:03PM (5 children)

    by Anonymous Coward on Tuesday November 14, @02:03PM (#596784)

    Even the naked pull-out method is fairly effective at preventing pregnancy; condoms are even more effective; combine the 2 methods and it's almost as effective as having never had sex. Incorporate non-penetrative sexual acts into your interactions, and you'll reduce the chances even further. Put the woman on birth control, if you want, for even more prevention.

    It's NOT possible to have an unexpected pregnancy!

    And, you know what? These "unexpected" pregnancy stories often involve couples who knowingly pass on horrific genetic abnormalities; I'm getting the distinct impression that these people are just moronic assholes who don't give a fuck about anyone else but themselves. Shame on these people.

    If you're an uncomfortable person, or if you know that you have a good chance of creating an uncomfortable person, then maybe you should do everyone a favor and cull yourself from the gene pool.

    • (Score: 2) by OrugTor on Tuesday November 14, @04:05PM

      by OrugTor (5147) on Tuesday November 14, @04:05PM (#596842)

      Thank you for saying what desperately needed to be said. The solution to lethal genetic disease stares us all in the face - prevention.

    • (Score: 0) by Anonymous Coward on Tuesday November 14, @05:30PM

      by Anonymous Coward on Tuesday November 14, @05:30PM (#596871)

      Obviously someone missed their chance with you, I bet your parents drink themselves to sleep every night wondering what could have been.

    • (Score: 2) by sjames on Tuesday November 14, @07:43PM (2 children)

      by sjames (2882) on Tuesday November 14, @07:43PM (#596941) Journal

      Your suggestions make pregnancy quite improbable, but not impossible. A couple doing those things might indeed be surprised when that less than 1 percent probable event happens.

      • (Score: 0) by Anonymous Coward on Tuesday November 14, @08:55PM (1 child)

        by Anonymous Coward on Tuesday November 14, @08:55PM (#596976)

        There's virtually NO chance whatsoever.

        And when it does happen, it's always a couple who knowingly produced a genetic aberration. Always.

        People are stupid or selfish.

        • (Score: 2) by sjames on Thursday November 16, @11:53PM

          by sjames (2882) on Thursday November 16, @11:53PM (#597984) Journal

          There's a lot of couples in the world, it doesn't have to be all that likely for it to happen from time to time.

          The rest is selection bias on your part. You don't hear much about the MANY cases where the baby is perfectly average.

  • (Score: 0) by Anonymous Coward on Tuesday November 14, @02:46PM (6 children)

    by Anonymous Coward on Tuesday November 14, @02:46PM (#596804)

    and this is the type of future that I want.
    I have kids, and as a consequence I don't want to imagine what these people have gone through.
    but at least we live in a world where science can start to help.

    • (Score: 0) by Anonymous Coward on Tuesday November 14, @03:41PM (5 children)

      by Anonymous Coward on Tuesday November 14, @03:41PM (#596830)

      It doesn't matter that you're a parent; it doesn't give you greater insight into the issue.

      • (Score: 0) by Anonymous Coward on Tuesday November 14, @04:17PM (4 children)

        by Anonymous Coward on Tuesday November 14, @04:17PM (#596845)

        you're right.

        what I meant to say is that I have kids, I care about them, and I imagine that other parents care about their children in similar ways.
        and I really don't want to imagine what it would be like to lose them.
        in this sense, I understand what losing a child is like much better than I did before I had children.
        at the same time, I do know that from their point of view, I don't understand them at all, and I would never claim that I do understand what they have gone through.

        even if, as a rational and non-psychotic human being, I would want children to not suffer as not-a-parent, I could not have claimed to understand and feel properly about it.
        it's sort of like the difference between watching that scene from forrest gump, and actually going to monument valley and experiencing everything in person.
        I only wanted to mention my being a parent in order to clarify the depth of "I want this future".

        I don't fully understand how someone with this experience may perceive my comment, I'm sorry if it seems like I'm trying to claim greater insight than I do have.
        I'm not sure how I could say these things otherwise, and I don't know how I could learn other than having a meaningful conversation with someone who lost a child.
        at which point you start to wonder whether it should happen in this thread, or whether it cannot take place properly on the internet.

        • (Score: 0) by Anonymous Coward on Tuesday November 14, @06:06PM (3 children)

          by Anonymous Coward on Tuesday November 14, @06:06PM (#596886)

          Are these trolls just autistic people? Or are they AIs trying to learn how to interact with humans?

          Don't be sorry for other people's lack of ability to perceive your intentions, nothing you said can possibly be construed negatively. You even put n a qualifier that is very clear "I don't want to imagine what these people have gone through." As for "I have kids" being inconsequential that person has issues, the article talks about small children dying which is very much related to "I have kids."

          • (Score: 0) by Anonymous Coward on Tuesday November 14, @08:53PM (2 children)

            by Anonymous Coward on Tuesday November 14, @08:53PM (#596973)

            That's a big problem in society, when the characteristic in question (in this case "parenthood") is completely inconsequential.

            No, being a parent does not make you suddenly more capable of understanding loss. Sorry. It doesn't.

            • (Score: 1) by Sulla on Tuesday November 14, @10:22PM

              by Sulla (5173) on Tuesday November 14, @10:22PM (#597018) Journal

              Good to know I understand drug addiction, being an alcoholic, migrating to a new country, learning a second language, shooting my neighbor, just as much as someone who has actually done it. Being an addict does not make them understand being unable to quit doing drugs more than someone who has never done drugs, I can freely judge and take action against their decisions because as a fellow human being I can understand as much as they can.

              As a parent I go out of my way to never say "as a parent" or "I have two kids, so" or "I think I would know because I have kids" because I don't consider it a reasonable argument or something worth saying. Same tier as women say that "as a woman" on 4chan. The poster above did not use it as "I know more than you" he used it as "this might personally affect me", with the former I feel you justified in complaining but with the latter you are just being an ass.

            • (Score: 0) by Anonymous Coward on Tuesday November 14, @10:37PM

              by Anonymous Coward on Tuesday November 14, @10:37PM (#597026)

              Yes, it very much does. Once someone has a child they've gone through a number of experiences where they find out how emotionally tied they are, well for most parents. Just the thought of losing a child will impact them. If you want to make the claim that a parent can not understand the loss of a child better than someone who has never had kids, well I don't know what to make of your "logic".

  • (Score: 0, Redundant) by Anonymous Coward on Tuesday November 14, @03:38PM (1 child)

    by Anonymous Coward on Tuesday November 14, @03:38PM (#596827)

    Even the naked pull-out method is fairly effective at preventing pregnancy; condoms are even more effective; combine the 2 methods and it's almost as effective as having never had sex. Incorporate non-penetrative sexual acts into your interactions, and you'll reduce the chances even further. Put the woman on birth control, if you want, for even more prevention.

    It's NOT possible to have an unexpected pregnancy!

    And, you know what? These "unexpected" pregnancy stories often involve couples who knowingly pass on horrific genetic abnormalities; I'm getting the distinct impression that these people are just moronic assholes who don't give a fuck about anyone else but themselves. Shame on these people.

    If you're an uncomfortable person, or if you know that you have a good chance of creating an uncomfortable person, then maybe you should do everyone a favor and cull yourself from the gene pool.

    • (Score: 0) by Anonymous Coward on Tuesday November 14, @06:00PM

      by Anonymous Coward on Tuesday November 14, @06:00PM (#596883)

      Ayyyy, someone learned how to copy-paste! Good job, up next: shoelaces

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