Genetic Disorder- Osteogenesis Imperfecta by Mary Ann Milletics https://padlet.com/mmilletics/p02s71vx5dsh Also known as "brittle bone" disease. en-us 2018-03-21 18:44:48 UTC 2019-03-14 15:27:00 UTC hello@padlet.com Osteogenesis Imperfecta- What is it? mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244704385 Osteogenesis imperfecta is a genetic disorder that affects the bones. The bones do not produce good collagen to make them strong so the bones are very fragile and will break easily. Symptoms of this disorder depends on the type of osteogenesis imperfecta a person inherits. The focus of this article is Type III and the symptoms include fractures of bone in the womb, loose joints, poor muscle development, respiratory problems, and very brittle bones. ]]> 2018-03-21 18:47:02 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244704385 What is the cause of the Disorder? mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244713010 The disorder is a rare disorder that is caused by a chromosomal mutation in several genes that code for normal collagen.  Ninety percent of the cases include mutations in COL1A, COL1A2, CRTAP, and P3H1 genes.  Normal genes produce normal collagen which provides strength and support in bone cells. These gene mutations produce abnormal collagen. ]]> 2018-03-21 19:01:50 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244713010 How is Osteogenesis Imperfecta diagnosed? mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244720789 This disorder can be diagnosed to a fetus while it is in the womb. A test called Chorionic Villus Sampling can test fetal cells for normal collagen. There can also be genetic testing for adults with mild forms of OI. ]]> 2018-03-21 19:16:42 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244720789 How is OI treated? mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244721496 Treatment of OI depends on how severe the disorder is.  There are different types of OI, ranging from Type 1 to Type 8.  Type 1 is the mildest and Type 8 is the most severe.  Medicines can be used to increase bone mass. There is usually a lot of occupational therapy to stabilize bones and joints.  Surgery may also be necessary to insert rods to stabilize bones.  
There are some medications available, such as Aredia, and Reclast. In the future, scientists will be looking into cell based therapy, bone marrow and stem cell transplants, and allele-specific silencing gene therapy. ]]> 2018-03-21 19:18:04 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244721496 Fragile Bones mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244723370 2018-03-21 19:21:37 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244723370 Pedigree- Dominant Inheritance mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244723621 2018-03-21 19:22:04 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244723621 Mutation in a COL1A1 and COL1A2 gene mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244724205 2018-03-21 19:23:13 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244724205 Links to more research for OI mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244725212
Here are 3 links to more research or current articles:
More information:
https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta
OI Foundation:
http://www.oif.org/site/PageServer?pagename=RS_Update
Recent developments:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566283/]]> 2018-03-21 19:25:34 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244725212 You tube video for OI mmilletics https://padlet.com/mmilletics/p02s71vx5dsh/wish/244725324 2018-03-21 19:25:51 UTC https://padlet.com/mmilletics/p02s71vx5dsh/wish/244725324