Tazzy GoetschMrs J. EmmetteMarch 11, 2014Tay-Sachs DiseaseIn 1881, Warren Tay was a British ophthalmologist, he was the first to describe an observation made of yellowish macular degeneration in a child who was showing symptoms of central nervous system degeneration, years later two other children from the same family experienced the same thing. In 1886 Barnard Sachs, a neurologist from New York City reported multiple cases of a similar nature and noted that it was very similar to the condition that affected many people who had Ashkenazi Jewish ancestry and which consisted of daily blindness, deafness, profound retardation, and death at a very young age. Sachs described the neuropathological changes found in the disease. Tay-Sachs disease is named after the two doctors who first described it. (Robert J. Desnick and Michael M. Keback, Tay-Sachs Disease) Tay-Sachs disease (TSD) is a mutation of the HEXA gene, carried on chromosome 15. Most commonly there is a deficiency of hexosaminidase A ( which helps break down fatty materials called GM2-ganglioside) a combination of null alleles contributes to extreme cases of infantile GM2 gangliosidosis; otherwise known as TSD. It has been shown that the infinite Tay-Sachs disease occurs more often in the Ashkenazi Jewish population, even individuals of the non-Ashkenazi Jews are affected by these allele mutations. 9 out of 10 affected children are of Jewish origin. Symptoms of PTSD begin as early as 3-4 months of age and are evident by 18 months of age. Although this is a very rare genetic mutation, the result is devastating, there is no cure for this disease and it is completely fatal. Cases involving TSD have been minimized due to the implication of scree......center of paper......Accessed: April 2, 2014.Unknown. March 12, 2013. Tay-Sachs Disease - Symptoms. Symptoms of Tay-Sachs disease. Available: http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Symptoms.aspx. Date accessed: April 4, 2014.Ken Bihn. 2007. CTSF: Cure Tay-Sachs Foundation. Gene therapy. Available: http://019221f.netsolhost.com/gt.shtml. Date accessed: April 6, 2014.D Gendy. 17 June 2009. Darwin students. Tay-Sachs disease in Ashkenazi Jews: origins and prevention. http://www.darwinstudents.blogspot.com/2009/06/tay-sachs-disease-in-ashkenazi-jews.html. Date accessed: March 28, 2014. Cochran, G., & Harpending, H. (2009). The 10,000-year explosion: How civilization accelerated human evolution. New York City: Basic Books.Trish. December 6, 2010. Prayer for a special family (Image). Available: http://ahouseupontherock.com/family-life/prayer/. Access date: April 12 2014.