Often, the more we learn about a disease, the more we learn about ourselves and the world around us. The story of the genetic disorder osteogenesis imperfecta (OI), colloquially known as brittle bone disease, illustrates this perfectly. As researchers continue to uncover the mechanisms responsible for OI development and progression, the better we understand the varied and crucial roles collagen plays in all parts of our biology. As historians attempt to trace how that knowledge has accumulated over time, the more we can clearly see how science rarely progresses consistently but rather erratically and is prone to interruption. And as we assess where we are with OI treatment and research today, the more apparent the gap is between knowledge and application, and just how critical lived experiences are in understanding a disease. In this episode, we explore these aspects of osteogenesis imperfecta, and we are thrilled to be joined by Natalie Lloyd, who shares her experience with OI as our firsthand account. Natalie is a New York Times bestselling author of novels for young readers, whose recently published award-winning book Hummingbird tells the story of a young girl with OI. Heartwarming, magical, and brilliant, this wonderful book is a must-read. Tune in today!
| History | Biology |
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| Baljet, B. “Aspects of the history of osteogenesis imperfecta (Vrolik’s syndrome).” Annals of Anatomy-Anatomischer Anzeiger 184.1 (2002): 1-7. | Rauch, F. and Glorieux, F.H., 2004. Osteogenesis imperfecta. The Lancet, 363(9418), pp.1377-1385. |
| William H. Bickel, Ralph K. Ghormley, and John D. Camp. “Osteogenesis Imperfecta”. Radiology 1943 40:2, 145-154 | Forlino, A. and Marini, J.C., 2016. Osteogenesis imperfecta. The Lancet, 387(10028), pp.1657-1671. |
| Charlier, Philippe, Antonio Perciaccante, and Raffaella Bianucci. “Oldest medical description of osteogenesis imperfecta (17th Century, France).” Clinical Anatomy 30.2 (2017): 128-129. | Marini, J., Forlino, A., Bächinger, H. et al. 2017. Osteogenesis imperfecta. Nat Rev Dis Primers 3(17052) |
| Dahan‐Oliel, N., et al. “Quality of life in osteogenesis imperfecta: a mixed‐methods systematic review.” American Journal of Medical Genetics Part A 170.1 (2016): 62-76. | Forlino, A., Cabral, W.A., Barnes, A.M. and Marini, J.C., 2011. New perspectives on osteogenesis imperfecta. Nature Reviews Endocrinology, 7(9), pp.540-557. |
| Devogelaer, Jean-Pierre, et al. “Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta.” Skeletal radiology 16 (1987): 360-363. | Ralston, S.H. and Gaston, M.S., 2020. Management of osteogenesis imperfecta. Frontiers in endocrinology, 10, p.924. |
| Enderli, Tanya A., et al. “Animal models of osteogenesis imperfecta: applications in clinical research.” Orthopedic research and reviews (2016): 41-55. | Jovanovic, M., Guterman-Ram, G. and Marini, J.C., 2022. Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types. Endocrine reviews, 43(1), pp.61-90. |
| Lowenstein, Eve J. “Osteogenesis imperfecta in a 3,000-year-old mummy.” Child’s Nervous System 25.5 (2009): 515-516. | Etich, J., Leßmeier, L., Rehberg, M., Sill, H., Zaucke, F., Netzer, C. and Semler, O., 2020. Osteogenesis imperfecta—Pathophysiology and therapeutic options. Molecular and Cellular Pediatrics, 7(1), pp.1-9. |
| Rauch, Frank, and Francis H. Glorieux. “Osteogenesis imperfecta.” The Lancet 363.9418 (2004): 1377-1385. | Arshad, F. and Bishop, N., 2021. Osteogenesis imperfecta in children. Bone, 148, p.115914. |
| Sillence, David Owen, and Shireen R. Lamandé. “Evolution of the present understanding of the clinical and genetic heterogeneity and molecular and biochemical basis of osteogenesis imperfecta.” Osteogenesis Imperfecta. Academic Press, 2014. 5-14. | Harrington, J., Sochett, E. and Howard, A., 2014. Update on the evaluation and treatment of osteogenesis imperfecta. Pediatric Clinics, 61(6), pp.1243-1257. |
| Sillence, DOetal, Alison Senn, and D. M. Danks. “Genetic heterogeneity in osteogenesis imperfecta.” Journal of medical genetics 16.2 (1979): 101-116. | Martin, E. and Shapiro, J.R., 2007. Osteogenesis imperfecta: epidemiology and pathophysiology. Current osteoporosis reports, 5(3), pp.91-97. |
| Tainmont, J. “History of osteogenesis imperfecta or brittle bone disease: a few stops on a road 3000 years long.” B-ent 3.3 (2007): 157-173. | Bishop, N., Rush, E., Reid, S.V., Sangiorgi, L., Semler, O., Gottesman, G., Cassinelli, H., Mistry, A., MacKinnon, A., Wang, H. and Putnam, W., 2023. Orbit: A Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase 3, Double-Blind, Placebo-controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta. IMPE Abstracts, 96. |
| Tsimicalis, Argerie, et al. “The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review.” Quality of Life Research 25 (2016): 1877-1896. | Lewiecki, E.M., 2014. Role of sclerostin in bone and cartilage and its potential as a therapeutic target in bone diseases. Therapeutic advances in musculoskeletal disease, 6(2), pp.48-57. |
| WEIL, ULRICH H. “Osteogenesis imperfecta: historical background.” Clinical Orthopaedics and Related Research (1976-2007) 159 (1981): 6-10. |
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