Canavan Disease Essay

773 Words2 Pages

Cameron Alexander
Mrs. Schroll 3rd period
Monday, May 5th
Canavan disease
Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and it seems to only affect a very small amount of people. Also it isn’t very common so I wanted to learn more about it, which helped when looking for information
The first case of Cananvan disease was described in 1931 by Myrtelle Canavan who was one of the first female pathologists. In 1987 a family with two children with Canavan disease sent tissue samples to Reuben Matalon who was a researcher looking for the gene. With those samples he was able to identify the gene 1993. He was able to make a test to help at risk couples that might have a child with the disease. The test was free but in 1997 the Miami Children’s Hospital, which was Dr. Matalon’s employer, patented the gene and claimed everything received from testing. This resulted in the Canavan Foundation withdrawing their testing. The Canavan Foundation later sued the Hospital and the lawsuit was resolved in a sealed out of court session. This case raised the issue of how suitable it is to patent genes.
Canavan disease first begins to appear in infants within the first few months of life. Between ages three to five problems with development, controlling head movement, and sitting without support begin to appear. Delay in motor skills also show. These symptoms are caused by the la...

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...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
Canavan disease is thought to effect less than a thousand people in the United States. One in forty are carriers for the disease. It occurs within people of all ethnic backgrounds but most commonly found in the people of Ashkenazi Jewish heritage. This is thought because those of the Jewish faith often marry within the same group or culture. These people are a group located mostly in eastern and central Europe.
Canavan disease is a rare genetic disorder that causes progressive damage to the nerve cells in the brain. While not yet curable, many therapies and experimental treatments are available to help those affected. As time goes on scientists will only continue to find a cure for Canavan disease and hopefully in the near future they will find one.

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