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  • Conversations with Dr. B

    Posted by Amanda on April 26, 2020 at 9:37 am

    In the Pre-fALS study that I participate in at the University of Miami, I often have conversations with Dr. B about ALS. At times, I often throw out many ideas and theories about ALS and it’s link to various mutations. He humor’s me and explains the most recent findings, and he usually is able to do this in layman’s terms that are easily understood by most non-medical professionals. Unfortunately for Dr. B, when I started volunteering I was in graduate school and had access to medical journals so I usually came to my visits with copies of articles, lists of questions, and even a few ideas and thoughts (which he nicely listened to every time.) One of the things we often discuss is how each different genetic mutation (linked to ALS) impacts the body differently, and results in ALS.  As we all know, that is why they are searching for different ways to treat ALS. The article , in my opinion, is a great direction for ALS research. I think it will help researchers and medical teams be able to narrow down what is needed to intervene and treat pALS based on each mutation. I’m curious to see if down the road it sheds light on to sporadic ALS and genetics. Have you had a chance to read this article? What direction do you think ALS research should be taking? Does information like this article increase your interest in clinical trials?

    duane replied 3 years, 2 months ago 4 Members · 3 Replies
  • 3 Replies
  • siok-tan

    November 30, 2020 at 11:29 pm

    Amanda, I agree that ALS research should incorporate more genetic testing to identify the culprit genes that cause the disease. By looking at types of gene mutations and correlating it to a patient’s symptoms could potentially “personalize” the way patients are treated, increasing success. This approach has been done rather successfully in certain types of cancer. For instance, if a certain culprit mutation is found to cause disease, then you can use drugs that target that mutation to treat the disease. If it is a single gene mutation, there is also possibility of gene therapy. Next Generation Sequencing (NGS) technologies have definitely revolutionized the way medicine is practiced, and have allowed us to interrogate the DNA quicker and much cheaper, compared to conventional methods and in turn allowing faster rate of discovery at a cheaper rate. I have not done any extensive research to find out how much extensive NGS work has been done on ALS, but it will be interesting to find out.

    The other potential direction is to also use NGS to find out the mechanisms for disease reversal, which has happened to some ALS individuals. If we can pinpoint what enables them to reverse the disease, then that could be a potential treatment route.

  • bill1949

    December 1, 2020 at 2:36 pm

    Thanks for posting , interesting. I absolutely agree that we need more and better genetic testing. Mine took forever. I too went to Dr Benitar for preFAlS and CReATe Als.  I also enjoyed my discussions with him.  My genome as well as my dad’s (from a brain donation) , my moms and a sisters were run. A brother had died before we could get samples.  We struck out finding the genetic cause although there is undoubtedly something there. I’m a firm believer in clinical trial and studies. My family Is a strange case with 4 different rare neuromuscular diseases.

  • duane

    December 1, 2020 at 9:42 pm

    I have ALS, my younger brother has PD, and my older brother died this year with Alzheimer.  there is definitely a genetic factor but it does have to be familial I think.  I believe external factors may cause mutations also.

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