1. T AY -S ACHS D ISEASE Nicole Schmidt and Caroline Cator

2. T AY -S ACHS An inherited disorder resulting in gradual destruction of the central nerve system. Metabolic disease- caused by malfunctioning of processes in the body http://www.sfn.org/index.aspx?pagename=brainBriefing s_TreatingTaySachs

3. H OW IS T AY -S ACHS INHERITED ? Autosomal Recessive on Chromosome 15 Caused by a mutation in the Hex-A gene Hex A is necessary for breaking down GM 2 gangosides in nerve cells and without enzyme the build up of GM 2 turns toxic and causes death Can be a carrier https://isbbio2.wikispaces.com/TSCauses http://www.allhealthsite.com/tay-sachs- disease.html

4. F REQUENCY 1 in 250 carry the gene In all backgrounds and religions French-Canadians and the Cajun population have greater risk of carrying it 1 in 27 carry the gene in Ashkenazi Jews http://tmp.kiwix.org:4201/A/Tay_Sachs_dis ease.html http://www.rachaeli.com/taysa chs.htm

5. S YMPTOMS Muscle spasms Deafness Blindness Paralyzation Red blotches in the retinas of the eyes Mental Retardation 60% don’t have mental problems 40% suffer from dementia, depression, and hallucinations

6. T YPES OF T AY -S ACHS Infantile- starts before birth, cells begin to destroy while in the womb, kids don’t live past age 5 Juvenile- Developed as a child Late Onset (LOTS)- developed as a teenager or adult http://www.causes.com/causes/126148-national-tay-sachs- allied-diseases-association-inc-ntsad

7. H OW IS IT DIAGNOSED ? Women can get tests done to see if Hex-A is present in the environment surrounding the baby, if there is they don’t have Tay-Sachs Test determined by Hex-A level in blood Doctors look for the red colored spots in the eyes http://taysachsdisease.ucoz.com/

8. T REATMENT Any treatment is to reduce suffering of the patient Doctors can give medicine to reduce muscle spasms and seizures

9. C URE There is no cure Scientists are in the process of stem cell research Test mice are being used http://stemcellumbilicalcordblood.com/2010/03/

10. W ORKS C ITED Freedman, Jeri. Tay-Sachs Disease. New York: Chelsea House, n.d. Print. Izenberg, Neil. “Tay-Sachs Disease.” Human Diseases and Conditions. N.p.: Charles Scribner’s Sons, 2000. Print. 3. Macy Jr., Josiah. Tay-Sachs Disease. N.p., n.d. Web. 28 Jan. 2011. Rizzo, Connie. “Tay-Sachs Disease.” Medical Guide. Ed. Dawn P Dawson. Vol. 5. 2008. Print. “Tay-Sachs Disease.” Fact Monster. N.p., n.d. Web. 28 Jan. 2011.