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Tay Sachs Final

Final Presentation for Biology

Benmark Larcena

on 13 June 2013

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Transcript of Tay Sachs Final

What is Tay Sachs?
TSD or Tay-Sachs disease is a disease that is most common in infants but can be apparent in older humans also. What this does is it builds fatty proteins in the brain during the infant’s growth period because the important enzyme does not exist in their body, causing paralysis, seizures and death. There are other forms of Tay Sachs, but the only differences are that they cause death at a later age or just cause various mental and physical problems that are not life-threatening.
What causes TSD?
A genetic mutation in the HEXA gene that is responsible for making the enzyme beta-hexosaminidase that removes the fatty proteins, GM2 Ganglioside. GM2 Gangliosides are produced during the development of an infant’s nerve cells. When two parents that carry the defective gene, they have a 25% chance of the child getting the disease. 50% of the time the child will be a carrier and the other 25% will have the normal gene. Severe forms of TSD are caused by a completely shut down Beta-hexosaminidase A.
What are the symptoms of TSD?
• Red dot in Retina
• Loses smile
• Can’t walk
• Harder for them to grip objects
• Seizures
• Stops crawling
• Deafness
• Blind
Is there any treatment?
There are no treatments that make extend the life of an infant, infants diagnosed with Tay Sachs will die usually in four to five years even with the best of care that can be afforded. The only preventable method is to check for defectives of the gene by getting screened. Additionally, there’s prenatal diagnosis that can test the fetus at different stages of pregnancy. The process draws samples from the pa, then comparing the levels of HEXA from the parents to a normal person’s level of HEXA.
What is the HEXA gene?
Hexosaminidase A is located in Chromosome 15 in between base pair 70,422,832 and 70,455,392. HEXA is used to create a protein subunit for Beta-hexosaminidase A.
After the six months that the child will be normal, the child’s smile will start to fade, then over the course of weeks, the child’s ability to see, hear and grasp things. By age 2, infants experience seizures, have less mental activity than normal children and (depending on the severity of Tay-Sachs) become fully disabled mentally and physical. After the age of 2, infants will have to start his/her passive tasks (breathing, waste, digesting…) on machines.

On the other hand the parents will start to have deal with high medical bills and knowing the thoughts of losing their child. The grief that the parents have to go through is just horrible because when the parents find out that the child has Tay Sachs, there’s nothing they can do about it and wouldn’t see their child through early childhood.
What research is being done?
Many neurologists are conducting and exploring various cures for Tay Sachs, such as:

• One possible cure is enzyme replacement therapy, replacing Hex-A with affected babies. This is only treats the symptoms not the actual disease, the medicine as to be taken lifelong to prevent the symptoms from coming back
• Gene replacement therapy is replacing the defective gene with a normal gene
• Cord Blood Therapy is when the donated blood that is left over from the placenta used because of its stem cells. Its use in Tay Sachs is that the fresh blood and stem cells could help with restoring the HEXA gene.
Any Questions?
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