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Genetic Diseases Project
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Published on Nov 18, 2015
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PRESENTATION OUTLINE
1.
OSTEOGENESIS IMPERFECTA
2.
GENETIC DISORDER
DNA inherited
Dominant/ recessive
3.
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.
4.
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
5.
TREATMENT
Care of fractures, and physical therapy are often recommended
extensive surgical and dental procedure
surgical procedure called “rodding”
6.
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
7.
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
8.
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.
9.
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.
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