Sunday, December 1, 2013

Animal Genome

CUTAG of the Week:


Many studies focusing on human disease have employed use non-human primate (NHP) or mamalian animal subjects, such as Rhesus monkeys and mice, respectively.  Other organisms, however, have genes comparable to those of people and the utility of their genomes being mapped for similar studies can be unfortunatey overlooked.  By observing zebrafish, genetic information crucial to the underlying mechanism of Native American myopathy has been gained.  What major limitations do the original researchers account for (original article citation is included at the bottom)?  Are their conclusions fairly and accurately summarized by Science Daily?


63 comments:

  1. The original researchers account for the fact that there are very few drugs that help with degenerative muscle diseases, but it goes on to say that the fact that they discovered this specific gene in Native American with myopathy will be more helpful at targeting the myopathy, rather than just knowing of the disease and trying to treat it without genetic counseling/screening.

    I think their conclusions are accurately summarized by Science Daily, but I don't think there is enough detail to fully understand the condition. Myopathy is a very broad term and as scientists, it would be cooler to hear about more details of this extremely specific disease to help understand more about the limitations and troubleshooting they will have to do to further treat this disease.

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  2. The biggest limitation they face in treatment of many degenerative muscle diseases is the lack of knowledge of the gene causing this issue. Without this knowledge no drug can be made to attempt curing the disease. With the zebra fish they are able to forward genetic screens and in vivo manipulations as well as analyze the zebra fish muscles in vivo with electrophysiology and live imaging. With this new technique it puts the researchers on the coat tails of discovering drug treatment for the myopathy.
    If someone were reading this article without prior knowledge I do not think the article would be of any use to them nor would it make much sense. Myopathy is a broad umbrella head with many facets and this article has very specific methods of research with the fishes so there was no way science daily could have addressed all this in such a short piece. Therefore, the science daily article does a good job of relaying the overall take home message from the original article without getting into any of the detail.

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  3. I believe scientists made this discovery about zebrafish before they associated the discovery with Native American myopathy. The association of degenerative muscle disease between zebrafish and humans must be taken with a grain of salt because this research is still in its early stages. The main component we must really focus on is the little knowledge that medical professionals and scientists actually have on this topic. Since there are little to no therapy/drugs when discussing degenerative muscle diseases it is very difficult to actually test on zebrafish.

    When comparing the actual study to Science Daily's summary, Science Daily does a good job at summarizing the association of the zebra fish disease to native american myopathy. Science Daily also highlights some of the major findings of the original study such as the development of Native American myopathy and the muscle protein Stac3. The article was intended to make the reader aware of a muscle disease and how it is related to the human genome and it does exactly as it intended.

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  4. I agree with Frank and believe that Science Daily did do a good job at summarizing the association of the muscle disease in the zebra fish and the disease of native american myopathy. Science Daily gave the reader all the main summary points and findings without being too confusing. It also was explained well and probably would not overwhelm someone who does not know very much about science.
    That being said, I think it is still a little early to be too excited about this association. The doctors have not found the source of the problem in neither the fish nor the Native Americans. If they can continue to use this fish and find more clues or find a drug to treat the muscle disease, then these findings would be even more important. The original researchers did note the limitations of drugs to help the myopathy, but explain how this could be a step in the right direction.

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  5. Science Daily did a good job at summarizing the key points between the association of muscle disease in zebrafish and the disease of Native American myopathy. They explained the study clearly and concisely, so any reader could understand the main points.

    Because this is preliminary research, a lack of knowledge is still a limitation. There are not many drugs that help myopathy, so it would be hard to experiment on zebrafish. However, this discovery could lead to the development of possible treatment, or the discovery of a specific cause of the disease.

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  6. The biggest limitation discussed by the original researchers was the lack of knowledge on congenital myopathy disorders. Currently these disorders are poorly understood especially in terms of the genetics. Headway is being made though with the location of the stac3 mutation found in zebrafish, relating similarly to human genes.

    Although surprised at how brief Science Daily's article was, it did a fine job with describing the research. It was better without the details and instead focused on the broader concepts of the study. It also gave hope that this newfound knowledge could lead to potential treatments for the disorder.

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  7. I think the article did a good job describing the research, though it was brief. The researchers explained that a limitation is that there are few drugs that help with degenerative muscle diseases. The article explained how zebra fish genetics can help cure disorders in Native American populations.

    I found that the article explained the research in basic terms and was a good summary of the more complicated research article. They were fairly accurate with the results.

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  8. I found it interesting that we can use the physiology of fish, specifically muscle weakness, to indicate issues with our own physiology. The article stated that “the muscles of zebrafish and people with the genetic mutation don’t make normal Stac3 protein and the muscles don’t contract effectively.” I was at first surprised to read that we could make such a correlation, but after thinking about it, it makes sense that our muscles are affected by the same genes as fishes since we as a species have similar genetic makeups. The article concluded with a hope that the findings of the gene for myopathy will lead to drug development to treat degenerative muscle diseases. Based on the novelty of this research of myopathy, I think this was a fair conclusion to make since these findings may open up doors for drug development, but the research is still in its early stages.
    A limitation that was accounted for in the article was that while the researchers understand that people and zebra fish with the genetic mutation don’t make normal Stac3 protein leading to abnormal muscle contraction, they were only able to study the importance of the Stac3 protein in zebra fish. More research is need on the impact of the Stac3 protein in regards to human muscle contraction. This research will not only provide us with more understanding of the disease myopathy, but also will help to develop the drugs to treat it.

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  9. Researchers were able to find the gene, Stac3, that is responsible for Native American myopathy, but little knowledge is known about muscle diseases as a whole. The researchers account for the fact that the genes responsible for many muscle diseases are still unknown. The Stac3 gene in the human and zebra fish both result in congenital myopathy but this disorder is so specific that it cannot be relayed to all muscle diseases. Furthermore, the identification of this gene does not mean that there a treatment has been found either. This finding helps researchers understand the pathology of this particular disease which opens doors to possible discovering a treatment.

    Overall, this article does well in summarizing the study for an average person to read and understand. It hits the main points that are most interesting and engaging to the reader without skewing the findings or the study in general. However, for this article to appear in ScienceDaily, I feel that the article could have contained more substance. It's very generic as if targeting a wider population but ScienceDaily probably has a more specific audience and could have been more in depth.

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  10. It appears that the biggest limitation is the lack of knowledge about the Stac3. Researchers need to conduct a great deal of research to determine how Stac3 is associated with EC coupling. They have identified a few possibilities oh how Stac3 participates in EC coupling including modulation of channel properties with DHPR and/or RyR1, regulation of DHPR and RyR1 at triadic junctions, as well as modulate protein trafficking/stability of DHPR and RyR1. In their findings they also found three other residues in humans (Y255, E283, and N299) that affect binding specificity with Stac3. The pathway that Stac3 interacts with DHPR and RyR1 as well as other residues is crucial to drug development. Without precise knowledge of this drug development is almost impossible. I think that the conclusions that the article makes are accurate, but it does not emphasize the preliminary nature of this discovery and the years of research that still need to be conducted before clinical trials have begun.

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  11. The researchers take into account the fact that there are very few treatments for muscular diseases. This lack of available drug options could render the research superfluous and is a major limitation, but the discovery of the gene will enable researchers to further develop drugs to treat the disease. I think Science Daily accurately summaries the findings of the researchers. However, it would be beneficial to look into the study in greater depth and understand their methods. I think it is exciting that we are utilizing animals and our genetic similarities to help fight disease.

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  12. What this article is saying overall is that there is some linkage between the Stac3 gene and myopathy, it does not go into depth about the physiology of how they relate, and that is because there is a lack of discovery in this area at this point. The article is simply making a statement about a finding, but it cannot to much more than that. It does not let people know that there are still many limitations to this finding.

    According to the original article’s researchers, the greatest limitation is the lack of knowledge about Stac3 and how it is associated with EC coupling. They also need to look further into how stac3 may be interacting with other genes and mechanisms in the body. Clearly, a lot of detailed research needs to be done, but the article does not acknowledge that. As I stated before, the article is simply stating a finding that is the beginning of what will hopefully become a solution.

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  13. I think that overall, the article does a good job of summarizing the findings and explaining it well. I think the broader focus made it easier to understand the components of the research instead of getting so technical. It's definitely interesting that we can look to fish to better understand our own human physiology.

    It is clear that the lack of knowledge on myopathy is a limitation to the researchers. With the lack of knowledge, it is hard to find treatments that can help prevent or treat the congenital disorder. I think that looking at the Stac3 can help to understand the disorder and possibly discover a treatment. It could even lead to more genes being discovered that are associated with myopathy.

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  14. One of the major limitations the original researchers account for is the overall lack of knowledge concerning degenerative muscle diseases. Very little research has been conducted thus far and as a result, these disorders are poorly understood, making testing on zebrafish quite difficult. Although, the association between the muscle disorder in zebrafish and Native American myopathy could be useful in the development of future therapies, research is still in the early stages and should not be considered concrete until replicated.

    Science Daily does a good job summarizing the original article and putting the information in lay person terms; however, at the same time, I think the association is a little blown out of proportion. Science Daily makes it seem like the common mutation found in both zebrafish and Native Americans represents the sole cause of the myopathy. Since little information currently exists surrounding degenerative muscle disorders in general, I think it is unfair for the article to conclude that the mutation in Stac3 is the disease-causing agent. Many other genetic and genomic factors could be contributing to the cause.

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  15. A limitation the original researchers account for is the lack of knowledge of degenerative diseases. It is pointed out that there are few treatments available because it is unknown what gene is causing these diseeases. Although they account for this, the article continues to state that the zebrafish is an exact match and make this seem like a huge milestone in science history. I believe the article is blowing out of proportion the connection between the zebrafish and humans or at least wait until there is more research supporting this connection. The information from science daily is put simply and is easy to understand by someone who may not be highly educating in medicine and genetics. However, i think the simplicity of the article may cause some weak points in portraying just how strong the connection is between humans and zebra fish.

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  17. The scientists accounted for the fact that they were looking at an animal that is really not related to humans at all by assessing the fish physiologically and genetically so as to gain an understanding as the what their genes encode for and if there were any similarities in humans that could potentially be applied. In addition to this, they were also looking at diseases which have very little background information as to what causes them; leaving the researchers with a lot of basic groundwork to do before any connections or conclusions could be made on their findings. Their conclusions are accurately summarized in Science Daily.

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  18. Zebra fish genes and human genes are very similar and numerous scientific discoveries have been extrapolated from research on zebra fish and other simplistic organisms like drosophila or C.elegans. The amazing thing about research on model organisms is that they provide a fast, cheap, and simple means of conducting scientific research, which can then be applied and studied in more complicated organisms. I think the article did a pretty good job at summarizing the research findings in a simplistic sense, but it is not a good article. It’s just not that interesting and overstates the findings. The original research says that the findings are useful for further research to identify therapeutic agents.

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  19. The researchers account for lack of knowledge about genes that cause this myopathy in Native Americans in North Carolina. They state that the main reason for lack of treatments, especially drugs and other pharmaceuticals, for genetic diseases such as this is that the gene variant causing the illness is unknown. The scientists discovery of what gene is most likely the cause of this myopathy will most likely lead to a greater ability to make drugs that treat this condition because now we know what we are treating genetically.
    I think that science daily provides plenty of information on the findings if the website is meant for the lay person. The summary takes out a lot of information about what myopathy means in general and what it means in this specific situation, and why it is important to know these things. So if you are reading this wanting to know all the details, and implications you will most likely want to read the whole article.

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  20. The original researchers accounted for the fact that the discrepancy in the number of study participants in each subgroup. Samples were collected from a total of 111 adult subjects without symptoms of neurological disease, 2 “normal” control individuals, and only 21 affected subjects were sequenced in total. Due to the amount of variability in disease origin and other confounding factors, I feel that the study should have involved more of the population they were interested in learning more about. I assume it was also difficult to recruit participants, as it may be a sensitive subject to some, or a topic people may not wish to discuss openly. I agree with some of my fellow peers that it’s a bit of a stretch to generalize these findings from experiments done on zebrafish to humans. Afterall, thus far the findings are said to be correlation, not causation. In my opinion Science Daily did a sufficient job summarizing the researcher’s conclusions in a way any person could understand, even without much knowledge on the scientific/genetics jargon and concepts used. Personally, I found the original article difficult to follow and hard to completely comprehend. Science Daily’s summary helped in that respect.

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  21. The greatest limitation is the lack of knowledge about myopathy disorders and how drugs can target the specific genes involved. Although genomics and pharmacogenomics is a growing field, there is not enough known about how drugs can effect these specific targeted genes, and another limitation with this is that it is a long and expensive process. In addition to the inexperience of pharmacogenomics, there is also little known about how to even treat myopathy disorders.

    The Science Daily article did a pretty good job at explaining the relationship between Stac3, zebrafish, and Native American myopathy. However, I thought they could have explained the methods of the research to give the reader more of an idea on how this study was conducted.

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  22. This article states that there is an association between myopathy and the Stac3 gene, however, it doesn’t go into much more detail because there is a lack of knowledge on myopathy. This is the biggest limitation. Their lack of knowledge on degenerative diseases makes it difficult to experiment on a zebrafish, because they are not really sure what drugs will help myopathy. I find it interesting that they can use the physiology of a fish to find problems with our physiology. Science daily summarized the article well and accurately.

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  23. There's a lot of controversy regarding the use of animals to study disease and extrapolating that information to humans. No doubt, a large amount of ailments have been addressed in humans from information discovered in animals. And as long as the information is collected in an ethical way to the organisms involved, and the surrounding environment, I believe that the usefulness of studying the animal genome is high.

    Unfortunately, that usefulness can really only come into play when the disease-in-question is well understood by humans. Myopathy is relatively not understood, so discovering a gene is only part of the solution. While the article summarizes the article well, there is still more to be done to help this vulnerable population.

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  24. What major limitations do the original researchers account for (original article citation is included at the bottom)?

    The greatest limitation in the study of Stac3 in zebrafish and the application of these findings to humans is that, as stated in the original articule published in Nature (http://www.nature.com/ncomms/2013/130604/ncomms2952/full/ncomms2952.html), the exact role of Stac3 is unclear. Although the correlation between the Stac3 gene and Native American myopathy has been established, the article in Nature explains the myriad hypotheses that could explain this relationship. Therefore, this lack of clarity is the greatest limitation of this study.

    Are their conclusions fairly and accurately summarized by Science Daily?

    Science Daily unfortunately oversimplifies the conclusions of the study and does not explain the important fact that the reasons behind these conclusions are not well established. Although one of the positives about Science Daily and their articles is that they summarize complex ideas into shortened passages, in this case Science Daily seems to have neglected key facts about the reality of this study’s findings.

    Shanika Gilmour

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  25. The Science Daily article does a good job of summarizing the found association between the Stac3 gene in zebrafish and humans to myopathy in Native Americans. However, a major limitation of the study is that it omits a lot of information about the real association between the gene and myopathy. There is still a lot that needs to be clarified and it would be wise to look further into the validity of the findings in the original research article and to confirm a stronger association before we jump to conclusions from the Science Daily article.

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  26. The discovery of the Stac3 gene in zebrafish will a small step towards pharmacogenomics. It helps that researchers are able to find genes that create certain disorders. That being said, the lack of knowledge and information on degenerative muscle disorders will slow the progress down. Myopathy is only 1 disorder and Stac3 might not be the cause of other muscle illnesses. Also, extrapolating results from zebrafish to humans may cause problems because our genomes differ. In the end, this is only a minor discovery and it will be long awhile before we find the source of different muscle disorders.

    Science Daily articles seem to be simplified in order to attractive a wider audience. They did a decent job summarizing the study but they did not include certain key facts and methods. It seems that the website is more focused on accessibility rather than details.

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  27. The original researchers mention a lack of knowledge about congenital myopathy. They say that while myopathies are debilitating, the genetic basis is largely unknown. This is concerning, as many individuals die from the disease, with 36% dying by the age of 18 (Horstick et al., 2013). Previously, it was only understood that there was a genetic locus for the congenital NAM. The original researchers were able to address this limitation by providing more information about congenital NAM. By using zebrafish, they were able to identify the STAC3 protein. The researchers discovered that a missense mutation in human STAC3 was the basis for the congenital myopathy.

    As mentioned by many other students, Science Daily did an excellent job summarizing the researchers’ conclusions. Science Daily used simple terms and concise statements to help explain an otherwise complicated concept. However, because of this simplicity, they did leave out an important conclusion that genomics students would understand. If I did not read the original article, I would not have known that it was a missense mutation.

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  28. Some of the major limitations that would affect their research include the inability to translate other diseases to genetic disorders that can be found in other animals. Although researchers were able to find the connection linked between the two. Although they did not experiment on NHP or mammalian animal subjects, they would not have been able to make the connection if it wasn't due to finding similarities amongst biologists and these researchers. I feel as if they got lucky and happened to find similarities between the zebrafish and the myopathy. It would take a very long time for the other researchers to figure out the same connection between other genetic predispositioned diseases and animals that suffer a similar disease.
    I don't believe that the similarities between the article from science daily and the original article produced similar results. The overall results are the same but there are some disparities between the two. Science Daily provided more vague results and this is to lure the readers into reading the article with less complicated words and more sentences that an average consumer would be able to understand. The scientific journal obviously produces more data and raw facts that an average reader would not be able to comprehend. As a result, there is a difference between leisurely reads as well as scientific journals.

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  29. After reading the original article, some of the limitations of the study were expressed by the researchers. One of the main ones that I noticed was the uncertainty in the mechanism of exactly how Stac3 participates in EC coupling. Though Stac3 was identified as a novel component of EC coupling, understanding its role in this pathway is important to helping diagnose, manage, and treat related diseases such as myopathy. Thus, although the researchers identified the association between Stac3 and EC coupling, they also state that there are a variety of mechanisms that this protein may participate in EC coupling. Identifying Stac3 specific role will be crucial in understanding pathogenesis of various diseases (particularly myopathies).

    The Science Daily article gave a very basic summary of the article. Although I think that the article does represent the original paper, if a reader were to only look at the Science Daily article, they may come away with a more optimistic view of the drug developments for myopathy. When reading the original paper, a reader understands what still needs to be studied in order for myopathy drug development to be feasible; however, when reading the Science Daily article, the reader may feel that a cure is possible in the very near future. Thus, though the article is an accurate representation of the original paper, the lack of detail can lead to a different understanding of the research than a person who read the original article.

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  30. Elisabeth BellissimoDecember 6, 2013 at 12:15 PM

    The major limitation that researcher account for is the fact that there is no known effective treatment for any degenerative muscle disorder. However, this was mostly because it is not known exactly what causes these types of diseases. But, thankfully due to the research done on the zebra fish, they have found a link between the Stac3 gene and the cause of myopathy in Native Americans. Another limitation that arises is how the discovery of the Stac3 gene translates to the causes of other degenerative muscle disorders.

    I think that the Science Daily article does a great job if summarizing the original findings, and gives hope that since the cause of myopathy has been discovered through studying other species' genomes, maybe the causes of other muscle diseases can be discovered soon as well. Also, further exploration of the Stac3 gene could lead to the discovery of treatments for these previously elusive muscle disorders.

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  31. What major limitations do the original researchers account for (original article citation is included at the bottom)?

    Unfortunately, one of the limitations of this study that the researchers account for is the lack of overall knowledge of degenerative diseases. Due to this lack of knowledge it is difficult for scientists to treat diseases without being able to pinpoint what exactly is causing the disease.

    It seems that Science Daily summarized the original article fairly well, however I think that more details should have been included to avoid misinterpretation by readers who are not educated on the topic at all. Before reading the original article I was under the impression that this new development was the solution, when it is really just the beginning of a solution.

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  32. Both the article in Science Daily and in Nature Communications address that one of the biggest limitations regarding this topic is how little is known about the pathophysiology of myopathy. However, it is important to address that the only way to discover the mechanisms and pathophysiology of this disease is to do studies such as this one. While there is much controversy about conducting studies on animals, there are a couple of reasons why I think they are necessary and applicable to human health. There are many regulations set in place to ensure that the studies are carried out in an appropriate manner and that the animals are treated ethically. Also, it is more ethical to do these studies on animal models as opposed to humans. Lastly, there are proven extrapolation methods for information obtained from animal studies in order for them to become applicable to humans. This last point is most relevant to the summary that Science Daily points out regarding drugs for myopathy. If the pharmacokinetics of new drugs for myopathy can be learned from animal models, then there is much hope for human health applications.

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  33. As most of my peers have already stated, a major limitation of this study is the overall lack of knowledge surrounding muscle degenerative diseases. Although they claim to better understand the genetic influence on myopathy in a certain Native American population by studying similar genes in zebrafish, the study should be taken with a grain of salt, as Frank stated above. I think that it is a good step in the right direction for further understanding these diseases but it should be more effectively analyzed and studied in order for it to really have an impact on future scientific engagements regarding muscle disorders in certain populations.

    In addition, I also think that the article did a respectable job of summarizing the larger study in terms that people who may not have high levels of health literacy would understand. I think Science Daily did fairly and accurately summarize their findings.

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  34. The major limitation of this study was the lack of overall knowledge about degenerative muscle diseases. Because of this, scientists, researchers, and doctors do not what genes are associated with muscle diseases, and therefore, it is difficult to develop new drugs and treatments/therapies for these diseases. However, as using the non-human subject, zebrafish, for studies pertaining to myopathy and different muscle diseases, more research and analysis must be conducted so that more knowledge is gained in this field.

    As many of my colleagues have mentioned above, Science Daily does a good job of summarizing the original article. It makes it a lot easier to understand for someone who is health illiterate (as we learned in class the other day, only 12% of the US population is health literate). However, I think the article should have better emphasized that these findings are just the beginning of this research in this particular field.

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  35. As said in the article, there are limited drugs to many degenerative muscle disease because scientists do not know the genes responsible for these disease. However, this newly discovered gene for Native American myopathy will help scientists develop drugs to treat this disease as well as other related muscle diseases.
    As for the article itself, the conclusions are accurately summarized and readers are able to understand the key points.

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  36. As many others have pointed out, the biggest limitations that the original researchers accounted for was the lack of knowledge surrounding degenerative muscle diseases, which has a major affect on how it can be treated. I think the Science Daily article does a good job of summarizing the study and putting it in more basic terms so that a wider audience can comprehend it. However, in doing so I felt that they may have made too much out of the association.

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  37. Degenerative muscle diseases are difficult to treat due to the lack of knowledge surrounding such diseases. The major limitation that researchers accounted for regarding Native American myopathy is that a similar disease exists among zebrafish, and this newfound knowledge can lead to the treatment of humans. I personally thought that Science Daily did an excellent job of summarizing the study and findings; they explained the situation thoroughly, but kept it in simple terms for the audience.

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  38. The major limitation discussed in the article in Science Daily and by the original researchers is the overall lack of knowledge regarding the pathophysiology and genetics of degenerative muscle diseases like myopathy. The only way to overcome this barrier is to conduct more studies in order to explore the mechanisms of this disease, which would involve the use of animal subjects. I think Science Daily does a decent job at summarizing the findings of the research, while also acknowledging the need for further research in the field in order to determine genetic associations with degenerative muscle diseases, which is critical for the development of new drugs for human health application.

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  39. Science Daily highlights the major barrier in this study which is the general lack of knowledge surrounding the applicable conditions and diseases. Specifically, in regards to myopathy in Native Americans, the genome of zebrafish can be compared and applied to human pathologies and treatments. Scientists do not have a wide enough knowledge base about degenerative muscle disease, so these recent findings with zebrafish are expected to lead to new discoveries for such diseases. I think the article does a thorough job summarizing the findings and ensuring that the readers understand the main points and results of the study, as well as how it will apply to future research.

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  40. I think that The Science Daily article successfully summarizes the findings and the association between the Stac3 gene in zebrafish and humans to myopathy in Native Americans. That being said, I think a large problem with this study is the limitations that accompany the study. One major limitation is that there is a lack of knowledge of degenerative diseases because scientists are not able to pinpoint the causes of these diseases. With this lack of knowledge, the study will be significantly more difficult to conduct. The mechanism of how Stac3 acts in EC coupling is a good example of this. Although Stac3 was identified as a component of EC coupling, scientists are still unclear of its role in the pathway. This is the important information that could be used to diagnose, treat, manage and possibly cure degenerative diseases.

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  41. In my opinion, the researchers’ conclusions are summarized accurately. There were able to determine exactly what muscle protein the mutation codes for (Stac3). Along with their findings, they touched on the limitations. Since little is known about degenerative muscle conditions, this is a difficult branch of science to study. Most known degenerative muscle conditions do not have a cure, and few drugs work, like the article stated. At least scientists are now able to make progress and have identified the gene and are able to connect it to Native America myopathy. I find is fascinating that genes from a fish are able to help scientists learn more about certain genes in humans, especially genes accountable for such a complex, degenerating disorder. This further proves how closely connected different organisms and species are.

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  42. The researchers definitely summarized the findings and association between the humans and Stac3 gene in zebrafish quite well. The one limitation from the study is that there is currently very few knowledge of degenerative diseases so they aren't able to develop drugs and other therapies targeting that specific disease. It is, however, good that they have finally found one gene to hopefully further their research. They are making progress and may eventually find a cure from the Stac3 gene from zebrafish.

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  43. As the article in Science Daily is brief, it offers the study's findings in its simplest form. Even so, it still manages to articulate the key points and discoveries. The study notes its limited knowledge of the effects certain genes have in coupling. The article does not mention these limitations which I believe to be crucial to the generalizabilty and application of the study's findings. The importance of the study was the discovery of the mutations, but the article fails to mention the need for further investigation and over emphasizes that application of the findings to humans from the zebrafish discovery. It is also important to note that the muscle disease is not only found among humans in this North Carolinian Native American population. The Science Daily article over simplifies the findings and applications of them, suggesting the existence of a solution to the genetic problem rather than a potential correlation that demands further investigation.

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  44. ScienceDaily always does a fine job of simplifying things so that laypersons can understand complex issues and this particular article does maintain accuracy in its simplicity.

    The biggest points in the Nature Communications article were that not much is known about degenerative muscle disease on the whole and that the Stac3 protein was their novel discovery. This gives special insight on Native American myopathy potentially leading to treatment, something that is currently less likely to be found for those other such diseases. ScienceDaily does cover these points but like many watered down science reports, the potential positive outcomes are a bit overemphasized.

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  45. The Nature Communications article points out that very little is known about myopathy in general. The genetic link has been created and the cause is known, but information on the exact process and what steps need to be done to create a viable disease is still far off.

    ScienceDaily does an excellent job of simplifying things. However, this simplifications creates an unsupported optimism. The format of the article is written to make the discovery seem pivotal, and a new discovery is imminent. In reality, while this discovery is remarkable and certainly a step, it is only one of many small findings that will need to be done until making a major discovery.

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  46. I think the biggest limitation of the study is that even though Stac3 is somehow associated with Native American myopathy, the exact role of Stac3 is still not clear. I think this is just the very beginning of understanding myopathy and the role of genetics in the disease. However, I think it is very interesting that we can look to the zebra fish genome to understand human physiology better. I believe that future research on Stac3 could lead to better understanding of myopathy and result in possible treatments. Also, with future research, other genes associated with the disease may be discovered.

    I think ScienceDaily did a great job summarizing the main points from the study. By writing in less technical terms, I think the majority of the public would understand the findings without having to have a background in genetics/biology. However, I also agree with Joseph that simplifying things may mislead the readers into thinking that this discovery will cure myopathy. In reality, while it is a crucial step in the process, a lot more research needs to be done before a potential drug/cure is found.

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  47. The biggest limitation that the original researchers accounted for is that there is little knowledge about degenerative muscle diseases. The genetic cause of myopathy is generally unknown, but progress has recently been made with the discovery of the mutant gene that encodes for Stac3, a protein that regulates a process required for muscle contraction. It was found that this gene was mutated in people who are suffering from Native American myopathy. This discovery will likely aid the future development of effective drugs for people who are afflicted with this disease.

    Science Daily provided an accurate snapshot of the original study, and is a helpful resource for those who are seeking a reputable summary about research. It was much more efficient for me to read the Science Daily article than the more complicated research study because I was simply interested in gaining a general understanding about the conclusions drawn by the scientists. It would have been helpful if Science Daily had gone into a bit more detail with the methods of the original study, so the reader would have a chance to evaluate the validity of the results.

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  48. When I read the article in Science Daily, I could understand the objectives and findings of this study very easily. It was summarized with simple and basic terms. Also, the article was concise where I could understand important parts of the study very clearly.
    However, I thought this study had a limitation. Muscle diseases are very broad field to just discover with one gene, Stac3. Also, finding one gene does not mean curing all muscle diseases. Researchers need to conduct more in-depth analysis to identify genes and treatment associated with muscle diseases. This is a good start to begin more research about genes associated with muscle diseases.

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  49. Vanessa Merta

    Though this article was brief, I think that it successfully explained the relationship between myopathy in humans and weak muscles in Zebrafish. I think the majority of the public would understand this article because of the terminology that they used, which is a great thing. So many people are unaware of tops such as this one that it is great to see that scientists are writing articles that can be understood by the everyday population.

    Like most of the class said, I think that the biggest limitation of this study is the lack of knowledge that we have now. This is a big step, but there is so much more to learn. The more we know the closer that we get to curing and treating degenerative muscle disorders. I think from here we just need more and more research on the topic, so eventually a treatment is found.

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  50. I think this article was interesting how they found a link between such a specific fish and a specific race of humans. This article was brief so at first it was difficult to decipher what the initial limitations were. However, I think that it's that since the results are specific, they are hard to generalize. In addition, much more research needs to be done to back up this research, but it could be a promising beginning to degenerative diseases, even if it is only in a specific race, for now.

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  51. The limitations which are mentioned are a lack of knowledge on gene linkage to the diseases and also a lack of medicine to treat the muscle diseases. There is not enough information about the diseases to be able to treat them and with this gained knowledge, there can perhaps be some progress.
    The article is summarized fairly well in science daily but it is very brief. I feel that if someone was to just read the article on science daily without researching the original article, they may be mislead due to the very short explanation of the gene and how much they actually know.

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  52. I thought this study was quite fascinating, but the article seems incomplete. Scientists had trouble creating a drug specific for native americans with myopathy in North Carolina because they did not know the genes responsible. It was noticed that zebrafish have weak muscles reminiscent of myopathy in humans so they sequenced the zebrafish and found the gene mutation responsible for muscle weakness and decided to try to find the exact same gene in humans. It turned out that they found it and this helped pharmacogenetic companies to create a drug solution. The major limitation to the study that the researchers are accounting for are how a fish's genes could even relate to human genes. Their conclusions are too simplistic to what the actual study discovered.

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  53. I think the purpose of the article on scientific daily is fulfilled as it is just meant to be an overview of the research and it goes further than most websites - it actually links the journal! The title is not misleading, they do not go for a bravado headline like 'MYOPATHY CURED BY ZEBRAS OF THE SEA' and i think they give a good account of the research performed, without the nitty gritty - if you want that, read the journal on nature.com (and pay the $34 dollars).

    The major limitation the researchers face is the lack of understanding of myopathy. This is a step towards the discovery of a cure but it is clear there is a lot more work to be done.

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  54. This is an interesting study that could lead to a greater understanding of myopathy in the future. The identification of the mutation causing the disorder is only one piece of the puzzle and the rest of the disease is not understood completely at this point in time. If further studies build on this research then this will bring scientists closer to treatment and a cure for this rare disorder.

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  55. It seems as though Science Daily has significantly truncated the findings of the original researchers. They have chosen to highlight the potential benefits of the research instead of providing an unbiased and complete presentation of all the scientists have learned from their research. I wouldn't say the reporting is inaccurate, just simply incomplete.

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  56. The fact that there aren't a lot of drugs that help with degenerative muscle disease is well accounted for by researchers. However it is pretty interesting that this gene was found in native Americans with myopathy, as knowing genetic aspects is always more helpful than trying to treat without it. It’s difficult to comprehend the conditions because there was a lack of details in the article.

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  57. This article was very interesting. However, upon reading about how they are using a myopathy in zebrafish to find a cure for a similar muscle weakness I was concerned why the scientists would think that they could compare zebra fish to humans. Though many cures and insights that we have now have come from NHP species, in the past, many inaccuracies that we held true for many years have also come from the use of NHP. My thought is that the scientists are taking a great leap of faith that they should further research especially because little is know about this myopathy in humans. This is what I believe to be their limitation.

    In addition I believe and agree with many of my classmates that science daily did not completely summarize the findings of the original article. Though what they have states is correct and simple to understand to the average person, it is incomplete and thus will lead many to jump to conclusions by using incomplete facts.

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  58. The major limitations of this study are the overall associations between zebra fish and humans. Just because zebra fish demonstrate similar gene deficiencies that result in the protein Stac3 not being encoded does not mean that zebra fish have genes comparable to humans. The article mentions that given the scope of degenerative muscle diseases, scientist do not know the genes responsible for the degenerative muscle diseases. The fact that Science Daily reported this information is very important because I believe it will allow readers to refrain from making the immediate association between the genomes of zebra fish and humans. Furthering the knowledge on the etiology of these disease will provide scientist with greater knowledge on the links between animal subjects and humans.

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  59. The original researchers accounted for the fact that there isn't a lot of information currently available about this subject. Not many people have considered using the zebrafish, so this research is groundbreaking.
    I thought this article was really interesting. I was concerned at first as to how studying a zebrafish could possibly help us treat a human genetic disorder - wouldn't we be too different? Fish and human? But the article briefly mentions as to why this could be possible.
    I agree with my of my classmates above: science daily, although provided correct information and didn't skew any facts, did not provide a lot of details. In short, they provided incomplete information about the study. I can understand why they would, for most of their articles are around this length. But cutting out so much information could cause readers who don't know better to draw incorrect conclusions from this article.

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  60. I think this article has a lot to offer for further research. I think the Science Daily review is pretty accurate in depicting the drawbacks and opportunities as a result of the study. The researchers mentioned the lack of myopathy drugs as a setback to the study but I think the information from this study will help spur further research and thus further drug development. Hopefully this new approach will open up the door further research in other diseases.

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  61. The article in Science Daily, although gives a nice summary of the article presented in Nature Communications, does not give the more important details of the study. They focus only that the discovery in the Stac3 gene contributes to human myopathy however they failed to mention that both maternal and zygotic Stac3 genes were needed to have full immobility.

    When summarizing an article, it is important to give the gist of the article without missing information that can lead to misinterpretation of the article itself.

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  62. Overall I think Science Daily gave a good and to the point description of how zebrafish are being used to help identify a mutant gene in Native American myopathy. They made it simple and easy to understand and was clear and concise on what they were talking about. They however were too misleading and after reading the article, you did not get all the facts you needed to accurately asses the association between zebrafish and humans. One major limitation to this study was that zebrafish and humans are not that closely related. The other huge limitation stated was that the exact role of Stac3 is unknown in EC coupling and although there is knowledge behind Stac3 and human myopathy the exact correlation is unknown. There are a variety of mechanisms that can participate in the EC coupling so in order to use this gene as a way to help treat and diagnose humans the correlation needs to be correct.

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  63. The Science Daily article was clear and concise. It gave a great background to how the zebrafish are used to find a mutant gene in Native American myopathy. It was interesting how the scientists used the genetics and physiology of the zebrafish to understand the importance of the the Stac3 gene.
    When comparing the actual study to Science Daily's summary, Science Daily does a decent job at summarizing the association of the zebra fish disease to Native American myopathy. Science Daily highlights some of the major findings of the study, including the association of the Stac3 gene. The article was intended to make the reader aware of a muscle disease and how it is related to the human genome and it does exactly as it intended, however it is a complex topic to understand if you have no prior experience in genetics.

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