Bloom Syndrome

Bloom Syndrome

by: Chicago Center for Jewish Genetic Disorder.

The Bloom Syndrome (BS) is a genetic disorder inherited from either your mother or father. The offspring that has this syndrome, has two mutant bloomed syndrome genes. This genes are called BLM. BLM are responsible for copying and repairing DNA in cells. Such changes causes high incidence of chromosomes breaking. Persons that have BLM in a single does, heterozygotes, are healthy. However, once a couple who has BS have a baby, the chances to have a healthy pregnancy is 1 out of 4.

Those who have BS are very small and have little body fat in infancy and childhood. They are very sensitive to sunlight however, intelligence is normal. Both males and females have a reduced fertility, and are predisposed to diabetes mellitus. There is no cure for BS but those who do have the syndrome are in constant supervision for cancer. Most that have this syndrome do not make it past their 27. This syndrome is very rare however, Ashkenazi Jewish are mainly the carriers of this syndrome.

The Bloom's Syndrome Resgistry has brought over 238 people with BS to further understand the syndrome, it's causes, and try to find a way for it to be cured. Still to this day, they keep on testing in hope to find a cure to this rare but deadly syndrome. This research is an example of discovery science because scientist discovered it and keep on researching more information about it. The little research and findings they have found has helped those affected to monitor themselves for probable cancer or from preventing another offspring to have BS.