Wednesday, May 29, 2019

Understanding Tay-Sachs Disease Essay -- Human Diseases, Genetic Diso

IntroductionWhen presented with this assignment, Tay-Sachs complaint was one of the first choices that came to mind since it is one of many diseases associated with Ashkenazi Jews (Jews of Eastern European descent). Tay-Sachs is a deadly heritable disease caused by the absence or mutation of Hex- A, an enzyme that breaks down complex fats called gangliosides found in nervous tissue. Without Hex- A, in that respect is a buildup of gangliosides in the cells of the brain, causing major damage to the cells (Learning About Tay-Sachs Disease). Tay-Sachs is an autosomal recessive genetic disorder, which means that both(prenominal) parents must be a carrier of the diseased allelomorph for the children to be at risk. The interesting thing about autosomal recessive disease allele is that they are hidden by the functionally normal allele and therefore can remain hidden for generations. Only when the couple has the same recessive disease allele there is a twenty-five percent chance that the disorder will appear in the child (Teichler-Zallen 162-163). Though there are terzetto existing forms of Tay-Sachs disease (Classic (Infantile), Juvenile, and Late Onset Tay-Sachs), this paper will focus on the most common form, Classic (Infantile) Tay-Sachs. General symptoms for all deuce-ace forms include loss of motor skills, muscular weakness, and respiratory decline (Tay-Sachs Disease). This paper will give the reader insight into the history as easy as a more detailed description of the symptoms, diagnosis, and prevalence of the disease.HistoryIn the early 1880s, three partially blind infants were brought to a clinic in capital of the United Kingdom supervised by an ophthalmologist named Warren Tay. All three infants had the same symptoms they were unable to turn over or sit up and they were unab... ...e.gov/10001220. Goldberg, Carey. First adult male Gene Therapy Trial Planned For Deadly Tay-Sachs Disease CommonHealth. CommonHealth Reform And Reality. 11 Nov. 2011. Web . 21 Nov. 2011. . Tay-Sachs Disease CCJGD. Chicago Center for Jewish contagious Disorders CCJGD. Web. 16 Nov. 2011. . Tay-Sachs Disease. NTSAD. National Tay-Sachs & Allied Diseases. Web. 16 Nov. 2011. . Teichler-Zallen, Doris. To Test or Not to Test a Guide to Genetic Screening and Risk. recent Brunswick, NJ Rutgers UP, 2008. 162-63. Print. WHO Genes and Human Disease. Genomic Resource Centre. World Health Organization. Web. 16 Nov. 2011. .

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