Tay-Sachs Disease

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Tay-Sachs Disease. (TSD)One of the most well known Jewish genetic diseaseAffects one in every 2,500 Ashkenazi Jewish newbornsThree forms of the diseaseInfantile-onset form (Well-known)Chronic GM2- gangliosidosis" (Lesser known; late-onset or adult form)Juvenille. Children that died from Tay-S

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Tay-Sachs Disease

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1. Tay-Sachs Disease By Jill Meltzer

2. Tay-Sachs Disease (TSD) One of the most well known Jewish genetic disease Affects one in every 2,500 Ashkenazi Jewish newborns Three forms of the disease Infantile-onset form (Well-known) “Chronic GM2- gangliosidosis” (Lesser known; late-onset or adult form) Juvenille

3. Children that died from Tay-Sachs

4. Genetic Chromosome 15 Problems with creating the enzyme Hexosaminidase A which helps break down certain lipids in the brain Causes a buildup of nerve cells in the brain which then affects the brainstem Autosomal recessive For a “carrier couple” there is a 25% (1 in 4 chance) that the pregnancy will be affected by Tay-Sachs

5. Punnett Square for Tay-Sachs Disease These two heterozygous parents are carriers to Tay-Sachs disease (note: both parents must be carriers). The autosomal recessive (tt) offspring will be affected by the disease. There is also a 50% chance the offspring will be a carrier of Tay-Sachs (Tt).

6. Punnett Square Visual

7. Symptoms of the Disorder (and Additional Health Problems) Clearly visible cherry-red spot in the back of the eye Developmental delays 10-14 months old child may have trouble with focusing and tracking their eyes. Trouble balancing themselves Difficulties with speaking Eventually, the nervous system becomes so affected that the body cannot support the life. Tay-Sachs is most commonly found in children, but the symptoms of the disease can also occur in adults or teens in a later stage of life.

8. Cherry-red Spot on Eye

9. Detection of Carriers Measurement of hexosaminidase A in plasma or white blood cells can help determine if someone is a carrier of the disease. Also can detect carriers through enzyme and gene mutation analysis prior to pregnancy (which can help a couple decide if they should have kids).

10. Prenatal Diagnostic Testing There are two types of prenatal diagnosis: CVS chronic villus sampling; procedure used for prenatal diagnosis; involves putting a needle through the abdomen into “fingerlike projections” of the placenta known as chronic villi. Aminocentesis Procedure used for prenatal diagnosis; Insertion of a needle through the abdomen into the amniotic fluid To this point, approximately 2,500 pregnancies have been monitored.

11. Prognosis and Treatment Children usually die by age 5. Tay-Sachs is fatal and results in death. Currently, there is no cure or effective treatment for Tay-Sachs.

12. Current Research There is worldwide research being done to find an effective treatment or cure for Tay-Sachs Disease. Researchers are exploring many Therapeutic approaches to find a treatment for Tay-Sachs. i.e. gene therapy, enzyme replacement therapy, stem cells

13. Genetic Counseling Approximately 1,100 carrier couples are counseled for their 25% chance to have a Tay-Sachs’s child. A genetic counselor might help a couple decide whether or not they should have children knowing that there is the chance that their child could have Tay-Sachs.

14. “My Little Girl Will Never Grow Up” This story is about a baby named Beth that was diagnosed with Tay-Sachs Disease. This story tells about how the family coped with Beth’s illness and how they attended support groups to learn how to properly take care of her. The couple also had another daughter, Kelly, who did not have Tay-Sachs. This shows that even though a couple may have one child that has Tay-Sachs, there is still the chance they can have normal and “non-affected” kids. To read more go to: http://domin.dom.edu/faculty/craigdav/N%20SC160/Boyce-Hagerty.html

15. Credits http://www.mssm.edu/jewish_genetics/diseases/tay-sachs.shtml http://www.ntsad.org/ http://domin.dom.edu/faculty/craigdav/N%20SC160/Boyce-Hagerty.html http://www.discerngenetics.org/images/6.1.gif -punnet square visual http://www.kellogg.umich.edu/theeyeshaveit/congenital/images/tay-sachs.jpg -cherry-red spot picture http://www.geocities.com/deanfamlee/angels.html -children that died from Tay-Sachs

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