The NICHD conducts research on osteogenesis imperfecta in order to clarify the ways in which the primary gene defect causes skeletal fragility and other connective-tissue symptoms. The Institute also aims to apply this knowledge to the treatment of children with these conditions.
Following the discovery of the genetic source of recessive OI, NICHD researchers now are working to advance understanding of its cellular and biochemical mechanisms. Parallel to this are studies with mouse models for OI to study disease pathogenesis and the skeletal matrix of OI, the effects of pharmacological therapies, and approaches to gene therapy.
Clinical studies are also a significant piece of the NICHD’s OI research effort. In particular, these focus on children with types II and IV OI.