Osteogenesis Imperfecta Research Paper

Lewis Thomas once said, "As a people, we have become obsessed with Health. There is something fundamentally, radically unhealthy about all this. We do not seem to be seeking more exuberance in living as much as staving off failure, putting off dying. We have lost all confidence in the human body" (Scrapbook.com). Diseases found in genes can most likely not be able to be put off, as they are heredity, in which case they are passed down from their parents, or a mutation, an irreversible change in the DNA sequence of a gene. People have no control over their probability of receiving this problem in their genes or not, even if they are always very concerned or cautious about their health. One hereditary problem found in a person's genes is Osteogenesis
Osteogenesis imperfecta is a disease that effects a person's bones with a series of problems. This genetic disease can be defined by its cause, the ways in which how it may be diagnosed, the symptoms and signs, and interesting facts on its occurrence as well. Scientists have been able to find the cause of how Osteogenesis imperfecta has come into existence in a person's body. The most common way that Osteogenesis imperfecta is inherited is through an autosomal dominant pattern. Usually, babies that are born with the extremely harsh type II Osteogenesis imperfecta are born into families that do not carry this condition. The type II Osteogenesis imperfecta is most likely caused by mutation found in the COL1A1 or COL1A2 gene in the egg, sperm, or embryo. However this is more aimed towards type II. The less extreme forms of this disease have a range from about twenty-five to thirty percent for their occurrence due to a new mutation in a gene. The rest of these less severe types appear because of hereditary from a parent. Once someone has Osteogenesis imperfecta, they can then pass it onto their children as well. There is a fifty percent chance that
"Osteogenesis imperfecta is described as a “rare” disorder occurring in approximately 1 per 10,000 live births" (Jay R. Shapiro). There are less than 20,000 cases every year in the United States. Brittle bone disease is greatly under-diagnosed. It is the most common connective tissue inherited disease in humans. The widespread knowledge of Osteogenesis imperfecta is yet to be explored in multiple groups of people through the earth. Over ninety-five percent of people who have Osteogenesis imperfecta will have the possible mutated gene that is heterozygous for type I. A person's life expectancy varies from very short to living a regular life. Types V, VI, VII, and VIII are additional types of Osteogenesis imperfecta that have been found. Osteogenesis imperfecta means imperfect bone formation (ghr.nlm.nih). It is not curable, but people who have it can seek out different treatment options such as bone-strengthening medications, physical therapy, and orthopedic surgery. None can be a for sure way to make one feel better, but they may