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Harvard HCM Genetics Treatment Breakthrough!


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  • Harvard HCM Genetics Treatment Breakthrough!

    They have discovered the first step toward being able to treat or prevent the leading cause of sudden death in athletes and sudden heart-related death in people under 30 in the United States!


  • #2
    Re: Harvard HCM Genetics Treatment Breakthrough!

    Interesting research, but I think it's important to realize this won't be a cure for everybody. In this expertiment they block the mutated gene, so less of the protein it encodes for gets produced. That's great if this protein poisons the normal function of the sarcomere. That's not always the case though. In the mutation I have not enough of the right protein gets produced. My guess is that silencing the gene on the other chromsome wouldn't do very much for me.
    Some people say I don't have a heart, but my doctor says I have too much?


    • #3
      Re: Harvard HCM Genetics Treatment Breakthrough!

      Nice idea.

      I will take a look at the article, but one concern is that RNAi is not completely specific. Thus if your design an RNAi to target a mutant HCM allele, it is also likely to target the normal allele, thus reducing overall levels of the targeted protein. I will take a look to see if they did these controls and get back to you. Another barrier to therapy is delivery.


      • #4
        Re: Harvard HCM Genetics Treatment Breakthrough!

        Checked out the paper, the levels of the normal allele (mRNA) are reduced ~10% and that for the mutant allele are reduced by ~70%. I would assay thus the effect is likely due to the reduced mutant levels, which is good. The delivery is based on Adeno-associated virus, the virus being used to deliver the RNAi. Other gene therapy approaches for use in humans have used this vector. RNAi therapies for other disorders have been approved by the FDA (see http://blogs.plos.org/thestudentblog...-21st-century/). So I think that this or gene editing are promising new approaches. Keep in mind that even if phase I clinical studies were started tomorrow, it would be likely 6-8 years before this would make it to market. However, good news for our Kids

        HCM dx 2009
        recent first symptoms