Wednesday, March 10, 2010

Bloom's Syndrome

1. Bloom's syndrome is caused by mutations in the BLM gene. Bloom's syndrome is a rare inherited disorder characterized by multiple breaks and rearrangements in a person's chromosomes. This DNA damage greatly increases the risk of developing many cancers early in life. Recurrent infections, chronic pulmonary disease, skin discoloration and type 2 diabetes are also common complications of Bloom's syndrome.

2. Genetic testing is important because a person must inherit a mutated copy of this gene from each parent in order to have the disorder. It would be smart to be tested prior to deciding on having a child in order to prevent the posibility of him or her having Bloom's syndrome.

3. I would get tested for free from 23andMe. It would make me more careful about food choices and encourage me to exercise and stay heathy so i can attempt to beat whatever disease it said I MIGHT get..

2 comments:

  1. I too would get tested from 23andMe if it were free as well. After watching the video on this I too thought that if we knew what diseases we are predisposed to we could make changes in our lifestyle in hopes to conquer such diseases. Especially if there was a possibility that I could get Bloom's Syndrome. One would want to be tested in advance since some cancers are developed in early life.

    Kellie Weathers

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  2. I would like to add also Bloom syndrome is the most common in Jews of Eastern European decent-(Ashkenazi Jews) and therefore is often classified as Jewish Genetic Disease.

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