Osteogenesis Imperfecta

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My name is Swathi Murthy and I am a senior at Olentangy Liberty High School and will be graduating in 2016. After high school, I hope to pursue an undergraduate degree in a science related field- Biology, Molecular Genetics, or Biochemistry at OSU, Boston University or Case Western Reserve University. Osteogenesis imperfecta (OI) us a rare disorder, and depending on the severity, can lead to prenatal death. Osteogensis imperfeta, also known as ‘Brittle-bone disease’ interests me, as in many cases, the place where your baby should be safe, in the womb, it is experiencing fractures and pain. As of now there is no cure for this disease, but the research being done has shown promising outcomes in reducing the fractures in OI patients. Furthermore, …show more content…

Imagine that he lets out a cry when being bathed, and you later learn that he has multiple fractures in his femur. Imagine learning that during birth he has fractures many ribs and X-rays show that he has several more healed fractures. This disorder is known as osteogenesis imperfecta, a genetic disorder that causes bones to be very fragile and to break easily. In most OI cases, there is a deformity that affects all structures that are made up of Type 1 collagen, like bones, cartilage, and ligaments. This deformity is based on a mutation that causes the genes encoding for type 1 collagen to be effected, and in turn reduces the amount of collagen in the bones. This mutation, most commonly known to be autosomal dominant, can lead to many different types of OI, ranging from a few fractures a year to prenatal death. We need more innovative approaches and better solutions to find a cure for this disease instead of just using braces and surgery that only improves living condition, but does not give patients a normal …show more content…

However, there are many treatments that decrease the number of fractures and make living conditions for these patients easier. One approach for treating OI is a surgical approach. In OI patients there are many cases of basilar invagination, a case where the spine migrates upwards. It can lead to not being able to breathe due to compression of the brainstem. Surgical methods are used to decompress the brainstem and restore the spine to normal. Surgery is also used to fix spinal deformities. Another method for treating OI is drug therapy. IV pamidronate is used in babies and has shown to be very effective. It can improve type 3 and type 4 cases by decreasing the rate of fracture, increasing bone mineral density, decreasing bone pain, and significantly increasing height. Bone marrow transplants are also used for treatment of osteogenesis imperfecta, for example, in utero transplants have been show to decrease prenatal deaths. Bone marrow has mesenchymal cells, MSC’s, which are what create osteoblasts, which create new bone. Inserting rods into your legs and hips is performed to correct deformities and provide protection around the time of first attempts at standing. However, this treatment must be used with caution, as it may lead to further deformity and fractures. Diet and therapy is used to ensure that the proper levels of calcium, phosphorus and vitamin D are taken in. This

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