Osteogenesis Imperfecta

By: Julie & Erin

What is Osteogenesis Imperfecta?

  • Osteogenesis Imperfecta is a disease in which the bones are very brittle and break frequently due to a gene that isn’t working properly.


  • When the gene doesn't work, it affects the collagen, which is a protein that makes bones strong.



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Risk Factors:

  • There is a 50% chance if you have Oi that it will be passed down


  • mild trauma


Diagnosis:

  • family history search
  • physical exam
  • imaging
  • lab tests




Preventing OI:

  • Healthy lifestyle


  • exercise


  • not smoking or excessive drinking




Treatment:

  • Exercise
  • Pain medicine
  • Physical therapy
  • Wheelchairs
  • Braces
  • Surgery


Facts:

-affects 6 to 7 per 100,000 people worldwide

-type 1 and 2 are most common

-type I and type IV are inherited

-type II and III are completely unrelated


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Severity Levels:

Type I: most common, most mild

Type II: most severe, very common

Type III: most severe in children who survive neonatal period

Type IV: people are moderately affected, relatively few fractures

Type V: moderate severity

Type VI: extremely rare! moderate severity

Type VII: people are moderately affected, relatively few fractures (resembles IV)

Type VIII: very severe (similar to II)



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Biomedical Engineering:

  • Scientists can take cells from a patient with OI, correct the defective gene
  • Induce pluripotency in the corrected cells and then coax them into collagen-producing cells
  • Example of this: Atticus Shaffer (actor)


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