This article is about Tay-Sachs Disease. Tay-Sachs is a genetic disorder that usually occurs in children. It is caused by the absence of hexosaminidase-A (hex A). Without this enzyme, a lipid accumulates abnormally in cells, specifically in nerve cells of the brain. The excessive accumulation will eventually start to damage cells. This is why/how Tay-Sachs progressively destructs the nervous system.
Babies with Tay-Sachs appear normal until about 6 months, which is when their development slows. By the time they turn 2 years old they may experience seizures and their mental state starts to degress. They will forget how to crawl, reach, sit... and death usually results by the age of 5, if not earlier. :'(
Tay-Sachs babies develop a "cherry-red" macula (spot) in the back of their eyes (retina). Eventually they lose their ability to see altogether. This is a picture of their retina, seen through an opthalmoscope:
Tay-Sachs results from a defect on chromosome 15 and can be identified through a simple blood test.
A common misconception is that this disease is limited to people of jewish decent. This is not true, although it is most common amongst people of Eastern (Ashkenazi) Jewish decent, anyone can be a carrier. There is no cure or treatment for Tay-Sachs. Researchers are in the process of finding a cure but, none so far. Scientists have looked at enzyme replacement therapy to provide for the Hex-A that Tay-Sachs' babies are lacking. Bone marrow transplants have been attempted, but did not slow down or reverse the symptoms of Tay-Sachs. Scientists still have hope on gene therapy. Hopefully the cure will show up in the near future!!!
On a brighter note, and mildly off-topic, but nonetheless interesting, this article talks about how there may be a Jewish gene for intelligence! Like Tay-Sachs and Gaucher's, there are certain things that are common, if not limited to, Jews. In my opinion, it sounds a bit ludicrous, but Gregory Coch-ran has teamed up with anthropologists and they have proposed that Ashkenazi Jews are more intelligent because of genetic mutation. After much assessment these researches concluded that genetic diseases are linked to a tendency to having greater intelligence. I don't know how accurate these researchers are but, I think we should keep in mind that Coch-ran was also the one who proposed that homo-sexuality is caused by an infectious disease... yeah!
Babies with Tay-Sachs appear normal until about 6 months, which is when their development slows. By the time they turn 2 years old they may experience seizures and their mental state starts to degress. They will forget how to crawl, reach, sit... and death usually results by the age of 5, if not earlier. :'(
Tay-Sachs babies develop a "cherry-red" macula (spot) in the back of their eyes (retina). Eventually they lose their ability to see altogether. This is a picture of their retina, seen through an opthalmoscope:
Tay-Sachs results from a defect on chromosome 15 and can be identified through a simple blood test.
A common misconception is that this disease is limited to people of jewish decent. This is not true, although it is most common amongst people of Eastern (Ashkenazi) Jewish decent, anyone can be a carrier. There is no cure or treatment for Tay-Sachs. Researchers are in the process of finding a cure but, none so far. Scientists have looked at enzyme replacement therapy to provide for the Hex-A that Tay-Sachs' babies are lacking. Bone marrow transplants have been attempted, but did not slow down or reverse the symptoms of Tay-Sachs. Scientists still have hope on gene therapy. Hopefully the cure will show up in the near future!!!
On a brighter note, and mildly off-topic, but nonetheless interesting, this article talks about how there may be a Jewish gene for intelligence! Like Tay-Sachs and Gaucher's, there are certain things that are common, if not limited to, Jews. In my opinion, it sounds a bit ludicrous, but Gregory Coch-ran has teamed up with anthropologists and they have proposed that Ashkenazi Jews are more intelligent because of genetic mutation. After much assessment these researches concluded that genetic diseases are linked to a tendency to having greater intelligence. I don't know how accurate these researchers are but, I think we should keep in mind that Coch-ran was also the one who proposed that homo-sexuality is caused by an infectious disease... yeah!
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