NICHD Osteogenesis Imperfecta Research Information

NICHD conducts and supports research on many aspects of osteogenesis imperfecta, including genetics and treatment. NICHD research has been instrumental in the discovery of the genes that cause recessive OI, as well as the development of mouse models that mimic the disease. These models are used to test potential treatments and methods of prevention, such as new medicines and bone marrow transplants. Researchers also are working to better understand the mutations that lead to recessive OI and how it differs from dominant OI.


  1. NIH. (2012). Pamidronate to treat osteogenesis imperfecta in children. Retrieved May 7, 2012, from
  2. Sinder, B. P., Eddy, M. M., Ominsky, M. S., Caird, M. S., Marini, J. C., & Kozloff, K. M. (2013). Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta. Journal of Bone Mineral Research, 28(1); 73–80.
  3. Gioia, R., Panaroni, C., Besio, R., Palladini, G., Merlini, G., Giansanti, V., et al. (2012). Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: A new target for osteogenesis imperfecta pharmacological therapy. Stem Cells, 30, 1465–1476.
  4. Panaroni, C., Gioia, R., Lupi, A., Besio, R., Goldstein, S. A., Kreider, J., et al. (2009). In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model of classical, dominant osteogenesis imperfecta. Blood, 114, 459–468.
  5. NICHD. (2011).2011 Annual report of the Division of Intramural Research. Retrieved May 7, 2012, from
  6. NICHD. (2011). 2011 Annual report of the Division of Intramural Research. Retrieved May 7, 2012, from
  7. NIH. (2012). Evaluation and intervention for the effects of osteogenesis imperfecta. Retrieved May 7, 2012, from
  8. Research Portfolio Online Reporting Tools. (n.d.). Pathogenesis of novel forms of osteogenesis imperfecta (project information 1P01HD070394-01). Retrieved May 7, 2012, from
  9. Cabral, W. A., Barnes, A. M., Adeyemo, A., Cushing, K., Chitayat, D., Porter, F. D., et al. (2012). A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genetics in Medicine, 14, 543–551.


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