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Tay- Sach’s

Tay- Sach’s. Presented and Made By: Miriam Orr, Rachael B., and Thao Nguyen. Pedigree for Tay Sach’s Disease!!. Type of Genetic Disorder. Autosomal recessive On chromosome 15 3 types- Infantile, Juvenile, & Late Onset. Passed from previous generations

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Tay- Sach’s

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  1. Tay- Sach’s Presented and Made By: Miriam Orr, Rachael B., and Thao Nguyen

  2. Pedigree for Tay Sach’s Disease!!

  3. Type of Genetic Disorder • Autosomal recessive • On chromosome 15 • 3 types- Infantile, Juvenile, & Late Onset • Passed from previous generations • Don’t have Hex- A enzyme (used for breaking down fatty substances in the brain) How is it inherited??

  4. How is it Diagnosed?? • Tay Sach’s blood test aka carrier screening • Possible to test fetus • Can usually be made by looking into the baby’s eyes. If a baby has cherry red spot at the back of the eye then it is a sign for Tay Sach’s • To confirm if the baby has Tay Sach’s they do blood work to see if the measure of enzyme needed to break down gangliosides, if low then the baby has Tay Sach’s

  5. Symptoms • Seizures • Noticeable behavior changes, such as baby stops smiling, crawling or rolling over and loses the ability to grasp or reach out • Increased startle reaction • Decreased eye contact • Increased irritability • Large head with slow body development • Delayed social and mental skills • Develops blindness, deafness, and an inability to swallow

  6. Treatment & Current Research • There is no cure for Tay Sachs • Gene Therapy is known to delay it • Currently being researched: ~stem cell transplantation involving an umbilical cord ~therapeutic options

  7. Life Expectancy • For Infantile: Lives until reaches ages 4- 5 ^ most severe of the three types • Juvenile: • Late- Onset: Life is normal length

  8. Genetic Counseling

  9. Graphics

  10. Cooper What did you first notice that was different?Were his symptoms rapid or slow at first?Where and when did you take him to for testing?How long was it before he was paralyzed?How long did the symptoms last until he passed?

  11. Works Cited • http://www.mayoclinic.org/tay-sachs-disease/symptoms.html • http://www.faqs.org/health/Sick-V4/Tay-Sachs-Disease.html • http://img.search.com/thumb/b/b3/Autorecessive_tay_sachs.gif/350px-Autorecessive_tay_sachs.gif • http://www.ntsad.org/ • http://www.tay-sachs.org/taysachs.php • http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm#What_is • http://www.sfn.org/index.cfm?pagename=brainBriefings_TreatingTaySachs • http://www.caringbridge.org/cb/photoMainView.do

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