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B1: Gaucher's Disease - Cam Barackman

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barbara hardin

on 13 January 2013

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Transcript of B1: Gaucher's Disease - Cam Barackman

Gaucher's Disease What is Gaucher’s Disease?

Gaucher’s disease is a genetic disease that is caused by a deficiency of enzymes in a glucocerebrosidase. Glucocerebrosidase is a protein that enables a chemical reaction. Fatty materials can accumulate in the spleen. GBA gene and chromosome 1 are affected by this disorder. What causes this disorder?

Gaucher disease is caused because enzymes don’t break down the fatty substances in your liver and spleen. When they don’t break down the substances they go to the brain and organs and eventually build up. What gene or chromosome is affected by this disorder and are there prenatal tests for this disorder?

GBA gene and chromosome 1 are affected because they get clogged up.
Yes there is prenatal test; if a woman is pregnant and they have Gauchers disease the doctor will recommend prenatal tests. By doing this test they can find out if the fetus is at risk. What are the symptoms of Gaucher’s disease? What population is affected? Can anyone be a candidate for the disorder? How is Gaucher disease inherited?

1) Some of the symptoms are: thinning of the bones, enlarged liver or spleen and even both, decrease in red blood cells, excessive fatigue, yellow spots in eyes, and nose bleeds.
2) The Ashkenazi Jewish population is mostly effected by Gaucher’s disease and also a lot of eastern Europe

3) Gauchers disease can be passed by the fetus to an offspring, and if it is 2 people have an offspring and both parents have Gaucher’s disease that baby still only has a 25% chance of getting Gaucher disease. What kind of medical assistance will the affected child need? Will further assistance be needed as the child grows older? What is the long-term outlook for the child?

The child if the disease is bad enough could die before the age of two. But if it is found before then it can be treated and never affect them. The way they will find if you have Gaucher’s disease is a process called genetic screening. They have the ability to take a sample of your blood and test it against someone who has Gaucher’s and they can see if you have it. If it is not found in time you may have to have your spleen removed. The good part about this is that once it is treated you will not have to deal with it and it won’t affect your everyday activities. If you decide to have a baby and your partner has Gaucher’s disease the baby still only has a 25 percent chance of having the disease. Are there any treatments or cures? Could this disorder have been prevented?

There is no cure to this disease, but if it is not found when you are little it could kill you. If it is really bad the only way to stay alive is to remove the spleen. When you are young and it is found you will get enzyme replacement therapy through drugs. They will put a dose of drugs in your blood and it will replace the enzyme that will keep you alive but it will not cure the disorder. There is no way to prevent the disorder it “sticks” with you for your whole life. What is the current status of research on this disorder? Is there a cure coming soon?

National Institute of Neurological Disorders and Stroke are currently researching on this disorder but, unfortunate they have not found the cure. They say that the research is looking better but still a ways from the cure and the closest is enzyme replacement. Futerman, Anthony. Gauchers Disease. New York, New York: CRC PressINK, 2006. Print.


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Lipkowitz, Ken. "About Gaucher's Disease." National Gaucher's Foundation. (2012): n. page. Web. 7 Jan. 2013. <http://WWW.GAUCHERDISEASE.ORG>.
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