This document contains a genetics presentation on osteogenesis imperfecta (OI) types and treatment. It includes several links to external sources of information on OI and the genes involved. It summarizes previous research finding that bone marrow transplant improved growth, bone mineralization, and fracture frequency in children with OI. The presentation notes a current pilot study using bone marrow mesenchymal cell therapy to treat OI after removing cells that could cause rejection, in hopes of increasing growth and bone strength. It contains several citations and links on OI genetics and treatment.

1. Jordan Hansard
Genetics Presentation
http://www.beltina.org/health-
dictionary/osteogenesis-imperfecta-types-
treatment.html

4. http://ghr.nlm.nih.gov/gene/COL1A1

5. http://ghr.nlm.nih.gov/gene/COL1A2

7. http://www.nejm.org/doi/full/10.1056/NEJMi
cm062996

8. http://media.morristechnology.com/mediafil
esvr/upload/gainesville/article/2011/06/25/0
626Coan_.jpg

9. http://otic.hawkelibrary.com/new/d/337-
2/4_59_hr.jpg
http://childrenshospital.org/az/Site1390/Images
/Thriving_Sandypic1.jpg

10. http://see.visualdx.com/diagnosis/osteogen
esis_imperfecta.jpg
http://www.hss.edu/images/articles/fassier_
duval_rods_OI_4_original.jpg

11. http://adc.bmj.com/content/vol92/issue4/im
ages/large/ac96552.f3.jpeg

12. http://www.ncbi.nlm.nih.gov/pmc/articles/P
MC3343766/figure/F8/

14.  Marrow Mesenchymal Cell Therapy for
Osteogenesis Imperfecta: A Pilot Study
 previous research found that children treated with bone
marrow transplant began to grow faster, had more minerals
in their bones, and broke their bones less often than before
the bone marrow transplant.
 It is hoped that by removing the CD3+ cells from the
donated bone marrow, the subject’s body will be infused
quite safely and that body growth and bone strength will
increase. The CD3+ cells will be removed from the donor
bone marrow by use of a machine called the CliniMACS
System. This machine has not been approved for use in
the United States by the Food and Drug Administration
(FDA). The use of this device is considered experimental.
Michael Kim, Jensen Law, Michael Lee, Shou Yi Poo (2004)

16. http://en.wikipedia.org/wiki/Kid_Presidenthttp://en.wikipedia.org/wiki/Atticus_Shaffer

17.  http://www.contempclindent.org/articles/2012/3/2/images/ContempClinDent_2012_3_2_197_96822_t1.jpg
 Aase JM. Diagnostic Dysmorphology. New York: Plenum Medical Book Company; 1990.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3343766/
 Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, et al. Mutations in the gene encoding the RER protein
FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010;86:551–559.
 Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, et al. CRTAP and LEPRE1 mutations in recessive
osteogenesis imperfecta. Hum Mutat. 2008;29:1435–1442. [
 B. Willem Vrolik as a teratologist [in Dutch] Ned Tijdschr Geneeskd. 1984;128:1530–1534.
 Baljet B. Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome) Ann Anat. 2002;184:1–7.
 Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, Bardoel AF, et al. Defective collagen cross-linking in
bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl
hydroxylase on chromosome 17. Proc Natl Acad Sci USA. 1999;96:1054–1058.
 Lapunzina P, Aglan M, Temtamy S, Caparrós-Martin JA, Valencia M, et al. Identification of a frameshift mutation in
Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010;87:110–114.
 Philippi CA, Remmington T, Steiner RD. The Cochrane Collaboration. England: John Wiley & Sons Ltd.; 2009.
Bisphosphonate therapy for osteogenesis imperfecta.
 Steiner RD, Pepin MG, Byers PH. Osteogenesis Imperfecta, in Pagon RA, Bird TD, Dolan CR, Stephens K (eds):
GeneReviews (University of Washington, Seattle 1993). http://www.ncbi.nlm.nih.gov/books/NBK1116/
 http://www.oif.org/site/PageServer?pagename=TypeI

18. QUESTIONS
http://www.cdc.gov/niosh/docs/94-127/