Bone Health Program

The Bone Health Program is a member of the Brittle Bones Disorders Rare Disease Clinical Research Consortium (BBD-RDCRC) within the Rare Disease Clinical Research Network funded by the NIH. The consortium’s goal is to perform collaborative clinical research on brittle bone disorders, including a longitudinal observational study driven by genotypic association. Laura L. Tosi, M.D., is the site principle investigator (PI) for this program. 

She is also co-PI of a pilot project that seeks to explore the use of the PROMIS tool to provide valid quality of life (QOL) measures in individuals with osteogenesis imperfecta (OI). This work has been motivated by the fact that all current outcome measures in OI have been developed by medical experts without input from patients, and patients and clinicians often disagree about the level of disease burden. The project seeks to develop clinical scoring instruments that capture the disease characteristics of importance to individuals with OI in order to fully compare and contrast the impact of new treatments, as well as to determine future needs and research topics.

• Laura Tosi, M.D.

Laura Tosi, M.D., has had the opportunity to partner with members of the National Human Genome Research Institute for more than 15 years as part of their effort to identify the cause of mosaic limb overgrowth. This work encouraged her interest in rare skeletal disorders and led to her focusing on these disorders in her research program. In addition, the Bone Health Program hosts a summer research program for medical students interested in a career in musculoskeletal health that focuses on discovering and validating genetic variants associated with musculoskeletal health and disease.

• Laura L. Tosi, M.D.