Vocab:
Genomics is a discipline in genetics concerning the study of the genomes of organisms
Calcium is the chemical element with the symbol Ca and atomic number 20
Summary:
The Undiagnosed Diseases Program has discovered a new disease. The program relies on teams of specialists who use the most advanced tools of medicine and genomics to try to figure out the causes of diseases that have baffled doctors. This disease is caused by a genetic mutation. What it does is not allow your body to get rid of calcium, which then clogs up arteries, similar to cholesterol. One of the first reported cases was Louise Benge's. Her symptoms were difficulty with walking and hands always hurting. Her doctors were baffled by this because no one had ever seen anything like this. After some X-rays they could see the arteries were clogged, but they did not know why. Then the Undiagnosed Diseases Program got the case. Eventually they figured out that it was a genetic mutation. All of her siblings had the same problem so they looked in the gene pool. Neither of the parents had it, so it was recessive. They then found it on a gene that was not working. This gene produces extracellular adenosine, which contains the amount of calcium in the body. So because they did not have this, the calcium took over. Currently they are attempting to make a cure for this problem. Some suggestions are using a drug that lowers the calcium producing enzyme, alkaline phosphatase. It is good to see that our systems are doing their jobs, finding diseases. If we did not have these in place some pretty terrible things could take place. Hopefully in the future Ms. Benge can live out her life without the calcium deposits. I hope the cure comes out soon and we can have a solution to yet another disease.
Sources:
Kolata, Gina. "Medical Detectives Find Their First New Disease." The New York
Times. N.p., n.d. Web. 6 May 2011.
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