Presentation1 genetic

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Presentation1 genetic

  1. 1. Tay Sachs Disease By: Alex Mancino
  2. 2. Background info on Tay Sachs• Causes intense mental and physical deterioration at a young age• Currently there is no cure• Mutations in the HEXA gene cause Tay-Sachs disease
  3. 3. Genetic Information• Autosomal recessive genetic disorder• It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent• Mutation is on 15th chromosome
  4. 4. Mutation on 15th chromosome
  5. 5. When each parent has the gene…• 50% chance that their child will be a carrier, but not have the disease• 25% chance that their child will not be a carrier and not have the disease• 25% chance that their child will have the disease
  6. 6. What actually happens?• Harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain• Insufficient activity of an enzyme called beta- hexosaminidase A that catalyzes the biodegradation of the gangliosides
  7. 7. Affected Body Parts• Red spot behind eye, forms – Blindness follows• Hearing loss• Complete loss of physical movement – Seizures
  8. 8. Diagnosis• Complete physical evaluation• A detailed history of symptoms and family hereditary disorders• Eye examination – Looking for red spot on eye• Blood test – A blood test can measure hexosaminidase A (hex A) activity – Parents can get blood tests to see if they carry the Tay Sachs gene
  9. 9. Prognosis• You’re screwed• Death usually occurs by the time the child is 5 years old• In cases where kids get Tay Sachs later on in childhood (rare) they usually die once the reach their teen years
  10. 10. History of Disease• Named after Warren Tay and Bernard Sachs• Warren Tay – First described red spot on retina in 1881• Bernard Sachs – Did further research and described the changes in cells during Tay Sachs – also noted an increased prevalence of Tay Sachs disease in the eastern and central European Jewish population
  11. 11. Bibliography• http://nervous-system.emedtv.com/tay-sachs- disease/history-of-tay-sachs-disease.html• http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm• http://ghr.nlm.nih.gov/condition/tay-sachs-disease• http://kidshealth.org/parent/medical/genetic/tay_sachs.htm

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