Thursday, September 26, 2013

Gene Therapy With a Difference


This article focuses on the benefits that an experimental drug which utilizes a “genetic technique” called exon skipping can have on a people that have Duchenne muscular dystrophy. Duchenne muscular dystrophy is a disease in which a genetic mutation inhibits the body from making the protein, dystrophin, which “acts as a shock absorber for muscles.” The main idea behind exon skipping is that by correcting the mutated gene which causes Duchenne muscular dystrophy the disease can be made better or even cured. Exon skipping is a juxtaposition from that traditional approach which gene therapy takes. Gene therapy attempts to replace the mutated or missing gene. Unfortunately, disappointing test results were released this past Friday. The results indicated that “drisapersen, was no better than placebo in preserving muscle function of boys with Duchenne muscular dystrophy.” This news was not only devastating to scientists but also to parents who had hope invested in this new medicine and technique. Duchenne muscular dystrophy occurs because “Mutations resulting in missing exons can lead to the wrong proteins being produced, or none at all.” Furthermore, people with Becker muscular dystrophy also produce “defective dystrophin” and as a result produce the wrong proteins or no proteins at all. Those with Becker condition usually have lesser symptoms. Those that use the exon skipping technique often hope to turn their Duchenne disease into the milder Becker disease. Moreover, many tests have been completed which show that scientists are really still trying to figure out this drug. Dosages need to be adjusted for each individual patient and for some the drug is ineffective.
This article is vital to society and our community in Bronxville. Often it is easy to forget that many are not as fortunate as we are. Many suffer from debilitating diseases that currently have no cure. Subsequently, articles such as this one, which highlight these problems and diseases, are vital to both science and public perception of sickness. In addition, this article is important because it details the latest medical and biological breakthrough concerning muscular dystrophy. I choose this article because I am interested in learning more about how gene mutations effect all of our body’s functions.
This article was written in such a way that it was both easy to understand and interesting to read. The writing was clear and concise and the author’s voice was authoritative and exciting. I also really enjoyed the media that was included along with this article. A picture of the mutated genes and of the DNA sequences was attached to the article. This made it easier to understand exactly what the author was saying. Furthermore, a video and pictures were included along with this article which added to my level of understanding. 



Pollack, Andrew. "Gene Therapy With a Difference." New York Times. New York Times, 23 Sept. 2013. Web. 26 Sept. 2013. <http://www.nytimes.com/2013/09/24/health/gene-therapy-with-a-difference.html?ref=science&_r=0>.

10 comments:

  1. I read Emma Berry’s review of the article, Gene Therapy with a Difference. I thoroughly enjoyed the article and the review since gene therapy is a topic I am very interested in. The review was very well-written. I understood what the problem was in Duchenne muscular dystrophy. The genetic code for a protein continually skips one exon causing the protein dystrophin to be produced incorrectly or not at all. Dystrophin acts as a shock absorber to muscles, and without the protein, muscles will slowly deteriorate. The review also mentioned how the article is relevant to us today as we must work for a cure towards many debilitating diseases. On top this; I enjoyed the review because it mentioned how the article included a video and graphic images. I checked them out, and they deepened my understanding of the topic.
    I think the review could have been better if the reviewer went into even more detail about why the article was relevant to us. She could have gone into even further detail about the patient, Billy Ellsworth, who is being interviewed in the article. She also could have gone into further detail about the possible solutions instead of focusing on the clinical trial that resulted in failure.
    Molecular Biology is my favorite area of the subject. I am particularly interested in studying genetics further. This article showed how researchers are figuring out new ways of treating diseases, but it also showed how much there still is to do. There are so many possibilities for treatment of other diseases, and this article made me even more interested in gene therapy.

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  2. Emma,
    I really enjoyed reading your current event on the article “Gene Therapy with a Difference. I like that you began your review with the background information on Duchenne muscular dystrophy, because some readers may not know that it is a disease in which a genetic mutation inhibits the body the protein called dystrophin, which “acts as a shock absorber for muscles”. I think that this allowed the article to be comprehensible by a wider audience. I also liked how you incorporated the difference between Duchenne muscular dystrophy and Becker muscular dystrophy as well as the similarities and differences in their symptoms and I learned that Becker muscular dystrophy condition has fewer symptoms, but they both cause the body to produce wrong proteins, or none at all. I think that this comparison was very interesting. One thing that I though could be improved on to make the review even better could be to include some specific information about the tests that they are running. For example, you could have included major doctors or scientists working on this cure and how they go about testing this genetic technique. One other thing that could have been improved to make the review of the article better would be if you had given the article some criticism in a third paragraph, such as if you thought that the article had explained this topic well or if it lacked background information. However, I also liked how you included quotes from the article from the scientists as well as the parents of the boy because it allows the reader to understand that this is not just science from a lab, but real people are being affected by this gene mutation. I thought that the whole review was interesting and I had never heard of Duchenne muscular dystrophy before so it was interesting to learn more about it. Overall, I thought that you did a great job on your review and that it was clear and informative for the reader.

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  3. I really enjoyed Emma’s review on gene therapy. Emma’s explanation of Duchenne muscular dystrophy was particularly well presented. A solid explanation of the disease was vital for the review because the reader needs to understand what the experimental drug in the article is working to cure. Emma explained Duchenne muscular dystrophy clearly and concisely. Additionally, Emma did a good job explaining exon skipping. Exon skipping is not an easy idea to explain but Emma succeeded by including quotes from the article and comparing it to traditional gene therapy. Another aspect of the review that was well presented was Emma’s explanation of why the drug is not the solution to Duchenne muscular dystrophy.
    I think an improvement to the review could have been to include more information on how Duchenne muscular dystrophy affects humanity in general. The article gave some shocking facts such as how the disease “affects as many as 15,000 Americans” and how, “Boys with Duchenne are typically in wheelchairs by their early teenage years and die from cardiac or respiratory failure in their 20s.” I think Emma could have elaborated more on the day-to-day affects the disease has on the patients and not just the science behind it. I think another improvement could have been an elaboration on possible future solutions because the article does mention some hope for the future.
    Not only did I learn what Duchenne muscular dystrophy is, but I also learned about the treatments for it. I was impressed to learn how much we have discovered and how far we have advanced in gene therapy. Not so exciting to learn was how widespread the disease is and how much more we’ll have to learn and do to cure such diseases. Overall, I learned a lot from this article and Emma’s informative review.

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  4. Great job, Emma! I loved your blog post—you chose an interesting article and wrote an excellent review. I thought you organized your review well, especially by starting with a well-structured description of Duchenne muscular dystrophy, a disorder that I had no knowledge of before reading your post. Your summary was very clear, and I now understand that this is a serious disease that causes muscle degeneration and often eventual death. I also admired your analysis of why the article “Gene Therapy With a Difference” is so important even if you don’t have this disorder; I appreciated your consideration of how it poses a grave quality of life issue for those whom it affects, and how we should recognize this and raise awareness of the problem. I also thought that you did a great job of encouraging the reader to learn more about this topic by looking at the photos and videos that you said enhanced your understanding of gene therapy, exon skipping, and Duchenne muscular dystrophy. By using words like “authoritative and exciting” to describe the article, you made me want to read it too.
    I think that you could make this review even better by elaborating a little bit more on the shortcomings of gene therapy as an approach to curing Duchenne muscular dystrophy. You said that gene therapy tries to replace the mutated or missing gene, but I was interested in why that approach doesn’t work well enough and needs to be improved. I also thought that you could improve your review by including some more information about what has been successful so far in treating this disease and how it might be helpful in the future.
    Prior to reading this review, I hadn’t known anything about Duchenne muscular dystrophy, but after learning how serious and deadly this disease is, I am impressed that scientists and doctors have found ways to diminish the adverse effects of the disease. Even if they are struggling to find more successful, consistent cures, it is impressive that they have found ways to improve the situation and adjust dosages of certain drugs to fit the needs of individual patients.

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  5. Emma did a particularly good job explaining on what Duchenne Muscular Dystrophy was caused by. She didn’t confuse us with jargon in the original article, such as codons, but I was still able to deduce that the problem lied in the DNA sequence from what she wrote and take a guess at what Duchenne Muscular Dystrophy did to a body in the long run from her quote “acts as a shock absorber for muscles,”. Initially I was confused on the difference of the exon skipping method and gene therapy but Emma was able to clarify that wonderfully. I also liked the fact Emma pointed out in the review that it included video and graphic images since I am a visual learning and those helped me understand more.
    One thing I wish Emma had done was being more specific on why Beckers was preferable to Duchenne. She did tell us it had lesser symptoms, but what was it exactly? Longer lifespan? Also I think she could’ve gone deeper into the relevance of this type of research done and perhaps provided us with a family affected point of view on this research as well.
    Overall this review was very well written and provided me with a good understanding of what Duchenne Muscular Dystrophy is and how they’re trying to treat it. I have never read about this technique “exon skipping” and the review made me very interested in why this seemed to be a placebo and what made it work for some but not others. I think the best thing a review can do is excite us about the actual article and her review opened my eyes and made me even more interested in gene therapy.

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  6. I read Emma's review of the article and I thought it was very well presented. In particular I thought she did a good job describing what Duchenne Muscular Dystrophy was and its effects on people who have it. I was very clearly able to visualize how the protein normally functions in the muscles as a "shock-absorber." In addition I think Emma did a good job of writing about how this was relevant to the people living in Bronxville, and how very often we don't realize how lucky we are, and how we need to educate ourselves to make us more aware of the terrible diseases in the world that have cures out their waiting to be discovered. I think she also did a good job describing Becker Muscular Dystrophy and how it differs from Duchenne, and how the drugs they are coming out with are aiming to make Duchenne more like Becker.
    One thing I was confused about and I think Emma could have cleared up a little was if the drug works or not, and if the two different drugs had different effects and outcomes on the patients. I was confused as to if both test results showed that the drugs did not have a statistically important effect. Another point that Emma could have elaborated on was on the life of the little boy, Billy, and how he has been affected by the disease and the treatment.
    Something I learned that was very interesting to me is that Duchenne Muscular Dystrophy affects mainly boys, and I was wondering what the reason behind that was. It made me wonder if the disease is related to colorblindness in that it is carried on the X-chromosome, which in turn led me to wonder if something like colorblindness could be fixed by the exon skipping method.

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  7. I read Emma Berry’s article summary on “Gene Therapy with a Difference” which I thought was very interesting. One thing I liked about this article was that the order of description was easy to understand and was made simpler. For example Emma mentioned that exon skipping can cause Duchenne muscular dystrophy, and then describes this dystrophy, and also explains what exon skipping. If she did not describe that this dystrophy is a disease where genetic mutation inhibits the body from making dystrophin, which acts as a shock absorber for muscles, then the reader would be lost. Another thing I liked about the article is that Emma explained how this information is related to us. She says that sometimes those who do not have any problems or diseases should not take it for granted and should be more considerate. The last thing that Emma did well was that she mentioned that there were videos and videos to view at the link posted because it aided in the understanding of the article.
    Although this article was written very well there are some suggestions to make it better. One thing that was a little misleading about the article is when Emma said, “The article is vital to society and our community in Bronxville. Often it is easy to forget that many are not as fortunate as we are.” This implies that everyone in Bronxville is fortunate and fine which is not necessarily true. Another suggestion that I would make is that she could have went into a little more detail about both diseases mentioned. She tells us that these diseases disallow the production of certain proteins or do not create proteins at all but no further explanation is given. Also there is a sudden transition where we are told that many are cured from this disease, to telling us that there is new news that suddenly that the parents of children are hopeless.
    Overall however I thought this summary was very good and taught me a lot about these dystrophies. I was impressed with how the scientists were able to find a cure for this dystrophy at first. I also learned how these dystrophies can effect the individual.

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  8. I read Emma Berry’s current event report on the article entitled “Gene Therapy with a Difference.” Emma’s current event report was well done. She did a good job explaining the relevance of the information that she presented and explaining why it is vital to our community in Bronxville. Also, I thought that her analysis of the article was very insightful. I agree with her analysis that the outcome of the test is devastating to both scientists and parents. Her summary of the article and the facts provided by the author were very detailed and left the reader with a good understanding of the disease. For example, her explanation of why Duchenne muscular dystrophy occurs helped the reader understand the causes of the disease. In addition, I liked how she started off her review with a definition of this disease. Since I had never heard of the disease previously, it made it easier to understand the rest of the review. Overall, I think that Emma made the report interesting while finishing the tasks that were stated in the rubric.
    Overall, the blog contained many good facts and interesting analysis. However, she could have improved the blog. Her blog had too many grammatical mistakes. She should have re-read her report more thoroughly before putting it on the blog. For example, she wrote “the main idea behind exon skipping is that by correcting the mutated gene which causes Duchenne muscular dystrophy the disease can be made better or even cured.” She should have inserted two commas and wrote, “the main idea behind exon skipping is that by correcting the mutated gene, which causes Duchenne muscular dystrophy, the disease can be made better or even cured.” In addition, she wrote “this article focuses on the benefits that an experimental drug which utilizes a ‘genetic technique’ called exon skipping can have on a people that have Duchenne muscular dystrophy.” She also should have inserted two commas and wrote, “this article focuses on the benefits that an experimental drug which utilizes a ‘genetic technique,’ called exon skipping, can have on a people that have Duchenne muscular dystrophy.” Moreover, I thought that Emma spent too much time explaining how the clinical trial failed. I thought it would have been more effective if Emma would have spend less time explaining the failed results and more time explaining the possible solutions for this disease. Nevertheless, I enjoyed the blog since I learned a lot from it regarding the disease.
    I think that Emma’s current event report was well done and included many interesting facts. Before I read this article and review, I had never heard of Duchenne muscular dystrophy. However, after reading the blog post, I found a few things surprising. I was especially surprised that instead of just focusing on curing a disease altogether, scientists try to reduce the side effects by turning it into a milder form of the same disease. Any progress or improvement is beneficial to the patient so also focusing on less pain and suffering is useful.

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  9. I thought Emma did a good job explaining to us readers what the article was about. I thought her lay out, examples, and connections were very good. I enjoyed how she talked about, i detail, what the new type of drug was being used for and also what the drug was in general. I really liked how she explained the relevance of the drug to Bronxville and to other communities and how she related them together. I thought that was very unique and interesting. The only thing I would say to improve on would be to go more in depth about certain details, Such as an exon. What is it exactly? Can it be used for more than one disease? How does it work in the human body? Other than that I very much enjoyed her article and thought it was well written. It summarized the article well and provided us with acute information about the topic. Well done!

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  10. I think Emma was made a very good review of the article "gene therapy with a difference". this article review effectively explained all the terms and showed why it is relevant to everyday people. I liked how she explained how the drug worked and showed the disappointments it gave. she presented the aspects on how scientist are trying to improve the drug well and keeps the article short and interesting. another part I liked was how she talked about how the article was presented to her and whether it was a good article or not. throughout the review Emma kept a easy to read tone that made this article a good read and made it interesting. However, there are a few things that I would fix. I would have discussed more about the disease and included a few facts to show how many people are affected by this disease every year. I would also have included how it could change Bronxville if the drug was created effectively, and what the scientist are doing to fix the drug. overall, I found this article extremely interesting and a great read. one fact that impressed me was when she discussed how the disease worked, "Mutations resulting in missing exons can lead to the wrong proteins being produced, or none at all.” I am interested in this topic and i am glad she explained this fact to us. this makes the article more clear and it intrigues me into this topic. i though Emma did a great job on the article on Duchenne muscular dystrophy and I hope I can read another article this good.

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