Monday, November 20, 2017

Genetic Diseases Explained Using Stem Cells (Pelizaeus-Merzbacher Disease)



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At the Case Western Reserve University School, researchers were able to grow stem cells successfully that were obtained from children who were diagnosed with neurological diseases. This opened up the opportunity to study the common symptoms caused by these diseases and provide a framework for new therapeutics. The stem cells were taken from 12 children who were diagnosed with Pelizaeus-Merzbacher Disease (PMD). This is a fatal genetic disorder that is caused by a mutation in the gene. This mutation makes the cell not have a proper amount of myelin. Generating these stem cells from these children helps researchers study a model and the genetic disease, PMD, in human cells.
                Using these stem cells, researchers were able to look at the disease at a cellular and molecular level and test for new therapeutics. The cells were grown in a laboratory. Once they were ready, the researchers studied different medications to establish if the cell function and myelin can be restored. The research indicated that these medications can be promising and if more advanced, can be beneficial.

                I find this study interesting since it opens opportunities to reverse the symptoms of a genetic disease. With these stem cells, researchers are able to model the symptoms of this genetic disease to try and discover a way to reverse the symptoms. This is helpful since most genetic disease causing cells are in the human brain. With this finding, different medications can be analyzed and become more advanced to reverse the symptoms of this genetic disease. 


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1 comment:

  1. Because they took the stem cells and noticed that there was a lack of myelin in them, maybe they can take a DNA sequence and look for the specific area that codes for myelin in that region of the body. This could help further pinpoint the exact chromosome, and area that could leader to better diagnosis of the disease.

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