Tay Sachs Disease Essay

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Recommended: Recent studies of tay sachs

Tazzy Goetsch
Mrs J. Emmette
11 March 2014

Tay-Sachs Disease

In 1881, Warren Tay was a British ophthalmologist, he was the first to describe an observation he made of a yellowish macular degeneration in an infant who was showing symptoms of central nervous system degeneration, years later two more children from the same family experienced the same thing. During 1886 Barnard Sachs, a neurologist from New York City reported more cases of a similar nature and noted it was a lot like the condition which affected many people who had Ashkenazi Jewish ancestry and the consistency of daly blindness, deafness and profound retardation and death at a very young age. Sachs described the neuropathological changes found in the disease. Tay-Sachs Disease was named after the two clinicians who had 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 in the hexosaminidase A, (which helps break down fatty materials called GM2-ganglioside) a combination of null alleles contributes to the extreme cases of infantile GM2-gangliosidosis; otherwise knows as TSD. Infintile Tay-Sachs Disease has been proved to occur more often in the Ashkenazi Jewish population, individuals from the non-Ashkenazi Jews are also effected by these mutations of alleles. 9 out of 10 affected children are of a Jewish heritage. Symptoms of TSD starts from as young as 3-4 months and are apparent by 18 months of age. Although it is a very uncommon genetic mutation, the result is devastating, there is no treatment for this disease and it is completely fatal. Cases involving TSD has been minimised because of the implication of scree...

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...Accessed: 2 April 2014.

Unknown. 12 March 2013. Tay-Sachs Disease - Symptoms. Symptoms of Tay-Sachs Disease. Available: http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Symptoms.aspx. Date Accessed: 4 April 2014.

Ken Bihn. 2007. CTSF: Cure Tay-Sachs Foundation. Gene Therapy. Available: http://019221f.netsolhost.com/gt.shtml. Date Accessed: 6 April 2014.

D Gendy. 17 June 2009. Darwins Students. Tay-Sachs disease in Ashkenazi Jews: Origins and Preventions. http://www.darwinstudents.blogspot.com/2009/06/tay-sachs-disease-in-ashkenazi-jews.html. Date Accessed: 28 March 2014.

Cochran, G. and Harpending, H. (2009). The 10,000 Year Explosion: How Civilization Accelerated Human Evolution. New York City: Basic Books.

Trish. 6 December 2010. Prayer For a Special Family (Image). Available: http://ahouseupontherock.com/family-life/prayer/. Date Accessed: 12 April 2014.

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