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.
Osteogenesis Imperfecta (OI): NICHD Research Information
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