Tay Sachs Research Paper
Genetic Information
Tay Sachs is a devastating genetic disease. There are three different forms of the disease- Early Onset which emerges around three to six months of age, Juvenile which mainly appears between the ages of two and five but could start anytime in childhood, and Late Onset which mostly presents in adolescence or early adulthood but could occur at any time.
Tay Sachs is caused by a mutation--a deletion of chromosome 15. The HEX A gene on this chromosome is responsible for creating the protein hexosaminidase A, which breaks down GM2, a component of nerve cells. When this builds up it is toxic and will cause cell death. The cause of this mutation is not known.
Tay Sachs is an autosomal recessive disease, meaning that …show more content…
Genetic testing can also be performed on parents before they conceive a child to determine whether they are carriers of the disease. This would be especially important if both parents were from high-risk populations to prevent families from going through this horrible experience.
Parents who are both carriers can still have biological children though. It is now possible to use IVF and to screen the embryos, looking for chromosomal mistakes so an embryo not affected by the disease can be implanted.
Discovery of Tay Sachs
Two different people discovered Tay Sachs: Warren Tay and Bernard Sachs. Tay discovered the cherry red spot on a patient. Years later Sachs discovered how the cells in Tay Sachs were different than healthy cells, which led to more research. The men who discovered Tay Sachs Weebly.com
Possible Treatments
In 1972 doctors tried to see if they could replace the missing enzyme but this was not successful, as the enzyme could not reach the brain. This type of enzyme therapy does not work for neurological diseases because the enzyme cannot get across the blood brain barrier, which has evolved in our brain to protect it from toxins. Even if it could be put into the brain such as through the spinal cord the neurons would still not be able to absorb the …show more content…
Lifespan also depends on how fast the disease progresses. It will progress faster the earlier it is diagnosed. Juvenile Tay Sachs is slightly different from Early Onset because the children have small amounts of hexosaminidase A in their blood. The gene is functioning but not properly. This is why the disease presents later and moves more slowly but is just as devastating.
Diagnosing children with Juvenile Tay Sachs is much more difficult because they may not have the cherry red spot. Also, this form of the disease is much less common so even doctors often dismiss the idea, thinking the child is too old to develop it.
Caring for children with this disease can be a huge challenge for a family, as they require constant care. They cannot feed, bathe, or go to the washroom by themselves. Families might need extra help such as nurses who come to help take care of the
Tay Sachs is a devastating genetic disease. There are three different forms of the disease- Early Onset which emerges around three to six months of age, Juvenile which mainly appears between the ages of two and five but could start anytime in childhood, and Late Onset which mostly presents in adolescence or early adulthood but could occur at any time.
Tay Sachs is caused by a mutation--a deletion of chromosome 15. The HEX A gene on this chromosome is responsible for creating the protein hexosaminidase A, which breaks down GM2, a component of nerve cells. When this builds up it is toxic and will cause cell death. The cause of this mutation is not known.
Tay Sachs is an autosomal recessive disease, meaning that …show more content…
Genetic testing can also be performed on parents before they conceive a child to determine whether they are carriers of the disease. This would be especially important if both parents were from high-risk populations to prevent families from going through this horrible experience.
Parents who are both carriers can still have biological children though. It is now possible to use IVF and to screen the embryos, looking for chromosomal mistakes so an embryo not affected by the disease can be implanted.
Discovery of Tay Sachs
Two different people discovered Tay Sachs: Warren Tay and Bernard Sachs. Tay discovered the cherry red spot on a patient. Years later Sachs discovered how the cells in Tay Sachs were different than healthy cells, which led to more research. The men who discovered Tay Sachs Weebly.com
Possible Treatments
In 1972 doctors tried to see if they could replace the missing enzyme but this was not successful, as the enzyme could not reach the brain. This type of enzyme therapy does not work for neurological diseases because the enzyme cannot get across the blood brain barrier, which has evolved in our brain to protect it from toxins. Even if it could be put into the brain such as through the spinal cord the neurons would still not be able to absorb the …show more content…
Lifespan also depends on how fast the disease progresses. It will progress faster the earlier it is diagnosed. Juvenile Tay Sachs is slightly different from Early Onset because the children have small amounts of hexosaminidase A in their blood. The gene is functioning but not properly. This is why the disease presents later and moves more slowly but is just as devastating.
Diagnosing children with Juvenile Tay Sachs is much more difficult because they may not have the cherry red spot. Also, this form of the disease is much less common so even doctors often dismiss the idea, thinking the child is too old to develop it.
Caring for children with this disease can be a huge challenge for a family, as they require constant care. They cannot feed, bathe, or go to the washroom by themselves. Families might need extra help such as nurses who come to help take care of the