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Genetic Diseases Project

Published on Nov 18, 2015

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PRESENTATION OUTLINE

OSTEOGENESIS IMPERFECTA

GENETIC DISORDER

  • DNA inherited
  • Dominant/ recessive

INHERITED

  • Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance
  • which means one copy of the altered gene in each cell is sufficient to cause the condition.

DIAGNOSIS & SYMPTOMS

  • Bone fractures that occur with little to no trauma
  • Bone abnormalities in ultrasounds lead to diagnosis
  • Often inherited from affected parent
  • Frequent fractures, short stature, teeth problems, hearing loss

TREATMENT

  • Care of fractures, and physical therapy are often recommended
  • extensive surgical and dental procedure
  • surgical procedure called “rodding”

LIFE EXPECTANCY

  • Life expectancy is not affected in people with mild or moderate symptoms
  • Life expectancy may be shortened for those with more severe symptoms

CURRENT RESEARCH

  • Use of Bisphosphonates as a potential treatment for people with OI.
  • new methods to assess the success of gene, cell transplant or surgical therapies

CITATIONS

  • . "Facts about osteogenesis imperfecta." Osteogenesis imperfecta foundation . N.p., 2012. Web. 11 Feb 2014. .
  • . "Learning about osteogenesis imperfecta." Genome.gov. National institutes of health, 15/2/12. Web. 11 Feb 2014.
  • A, Amanda. Osteogenesis imperfecta. N.d. Photograph. n.p. Print.
  • . "Recessive forms of OI." Osteogenesis imperfecta foundation. N.p., 2007. Web. 11 Feb 2014.
  • . "OI issues: genetics." Osteogenesis imperfecta foundation . N.p., 7/99. Web. 11 Feb 2014.

CITATIONS

  • Byers, Peter. "Genetic evaluation of suspected osteogenesis imperfecta." Genetics in evaluation. N.p., 2008 June . Web. 11 Feb 2014.
  • . "Important Information About Bisphosphonates." Osteogenesis imperfecta foundation. N.p., 2012. Web. 11 Feb 2014.
  • Rauch, Frank. "Type V Osteogenesis Imperfecta." Wiley online library. N.p., 2014. Web. 11 Feb 2014.