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

Introduction When presented with this assignment, Tay-Sachs disease 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, there is a buildup of gangliosides in the cells of the brain, causing major damage to the cells (â€Å"Learning About Tay-Sachs Disease†). Tay-Sachs is an autosomal recessive genetic disorder, which means that both parents must be a carrier of the diseased allele 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 chi ld (Teichler-Zallen 162-163). Though there are three 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 three forms include: loss of motor skills, muscular weakness, and respiratory decline ( ¹Tay-Sachs Disease). This paper will give the reader insight into the history as well as a more detailed description of the symptoms, diagnosis, and prevalence of the disease. History In the early 1880’s, three partially blind infants were brought to a clinic in London 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 Human 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 Genetic 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. New Brunswick, NJ: Rutgers UP, 2008. 162-63. Print. "WHO | Genes and Human Disease." Genomic Resource Centre. World Health Organization. Web. 16 Nov. 2011. .