RARE DISEASES CLINICAL RESEARCH NETWORK
Brittle Bone Disorders |  |
Physicians, researchers, and educators focused on learning more about osteogenesis imperfecta (OI) and developing new and better treatments to improve the care of patients with OI, a group of inherited connective tissue disorders associated with a wide range of symptoms, including fragile bones that break easily. | |
Principal Investigator
Baylor College of Medicine
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TOP PUBLICATION
JOURNAL: Journal of Child Health Care
In addition to physical symptoms, OI can contribute to negative mental health outcomes. Previous research has focused on mental health among children with OI and their caregivers, as well as the perspectives of clinicians who care for individuals with OI. However, no studies have compared mental health-related themes among all three of these groups.
In this study, researchers explored child, caregiver, and clinician perspectives on mental health in children with OI. The team conducted semi-structured interviews with these groups and analyzed their answers to find common themes.
Results reveal themes of depressed and anxious moods, as well as risk factors and protective factors for these symptoms. Authors note that further work may be needed to tailor psychotherapy and pharmacotherapy for children with OI.
What was your consortium's most significant achievement from the past year?
Brendan Lee, MD, PhD, Principal Investigator, BBDC: Through the Brittle Bone Disorders Consortium (BBDC), investigators completed the systematic collection, harmonization, and analysis of the largest radiographic imaging cohort ever assembled for a rare bone disease population. This unique dataset, built through years of collaboration across sites, provides an unprecedented opportunity to characterize disease progression, skeletal outcomes, and clinical variability in osteogenesis imperfecta and related disorders. The resulting analyses establish a critical evidence base for developing disease-specific outcome measures and advancing future therapeutic studies.
EARLY CAREER INVESTIGATOR SPOTLIGHT
What are your research goals?
Dr. Robinson: My long-term research goal is to advance precision health approaches for individuals with skeletal dysplasias by defining disease phenotypes, identifying mechanisms of morbidity, and developing targeted therapeutic strategies that improve biological, psychological, and functional outcomes. A major focus of my program is to elucidate the mechanisms underlying chronic pain in OI and to develop evidence-based approaches to prevent and treat pain in individuals with primary bone disorders.