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Tay - Sachs

Tay - Sachs. a genetic disease. Sample student project. Rebecca Fairchild Cohen. a fatal genetic disorder that progressively destroys the nervous system. What is Tay-Sachs?. Infantile onset (the most common form) Juvenile onset Adult onset Go to slide 12 for more information.

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Tay - Sachs

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  1. Tay - Sachs a genetic disease Sample student project Rebecca Fairchild Cohen

  2. a fatal genetic disorder that progressively destroys the nervous system What is Tay-Sachs? • Infantile onset • (the most common form) • Juvenile onset • Adult onset • Go to slide 12 for more information.

  3. The absence of the enzyme Hex-A Hex-A is needed to break down a lipid that accumulates in brain cells The build-up of the lipid damages the brain cells What causes Tay-Sachs?

  4. It is an autosomal recessive disease. How is Tay-Sachs inherited? gene on chromosome #15 fails to code for Hex-A enzyme Carriers do not have symptoms of the disease because their one dominant gene codes for enough Hex-A to break down the lipid that accumulates

  5. Around 3-10 months of age, the baby’s development slows and then regresses. Around 2 years of age, the child has these symptoms: Seizures, blindness, deafness, mental retardation, paralysis, non-responsiveness, loss of muscle strength Child usually dies by age 4 or 5 How Tay-Sachs affects the body

  6. Occurs most often in the people of Eastern European (Ashkenazi) Jewish descent Affects 1 / 2500 - 3600 people of Ashkenazi Jewish descent 1 / 25-30 people in this population are carriers. 1 / 250-300 people in the general population are carriers High frequency among French Canadians of Southeastern Quebec, and among Cajuns of Southwest Louisiana Incidence of Tay-Sachs

  7. First described by Drs. Tay and Sachs in the mid-1800s When was Tay-Sachs discovered? • The Hex-A gene was isolated in 1985

  8. Prenatal testing: Chorionic villi sampling at 11th week of pregnancy Amniocentesis at 16th week of pregnancy How is Tay-Sachs diagnosed? After birth: • Blood tests can identify amount of Hex-A or the presence of the recessive gene

  9. Blood tests can identify carriers Parents can decide if they want to take the risk of having a child born with Tay-Sachs. Testing for Tay-Sachs

  10. There is no cure or effective treatment. Bone marrow transplant has not been successful Current research is exploring: Gene therapy Enzyme replacement therapy Treatment for Tay-Sachs

  11. National Tay-Sachs and Allied Diseases Association National Organization for Rare Disorders Support groups for Tay-Sachs families

  12. See a set of video clips of a woman who is currently living with adult-onset Tay-Sachs Disease Living with adult-onset Tay-Sachs

  13. http://www.usoe.k12.ut.us/curr/science/core/bio/genetics/tay_sachs.htmhttp://www.usoe.k12.ut.us/curr/science/core/bio/genetics/tay_sachs.htm http://www.yourgenesyourhealth.org/ygyh/mason/ygyh.html?syndrome=tay&section=whatisit&video=0 http://www.genome.gov/page.cfm?pageID=10001220 http://www.nlm.nih.gov/medlineplus/ency/article/001417.htm http://www.geneclinics.org/servlet/access?qry=19&db=genestar&fcn=term&gtreport2=true&learnmore=true&id=8888891&key=b6Oj32NyEa1uJ Image on slide 4 http://www.kennedy.dk Image on slide 2 http://www.mrcophth.com/ww/tay-sa.html Images on slide 7 www.hospitalelrosario.com/Obstetricia.htm\ Images on slide 8 http://www.geocities.com/EnchantedForest/Pond/3061/coltonpage.html Image on slide 12 Citations

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