Osteogenesis Imperfecta

Dr. Jay R. Shapiro is a graduate of Franklin and Marshall College and the Boston University School of Medicine. He serves as Professor in the Department of Physical Medicine and Rehabilitation and Director of the Bone and Osteogenesis Imperfecta Department at the Kennedy Krieger Institute. He served as Director of the General Clinical Research Center at Johns Hopkins University and is on the Medical Advisory Committee of the Osteogenesis Imperfecta Foundation. Dr. Shapiro also served as the Chief for the Bone Team of the National Space Biomedical Research Institute. Dr. Shapiro has specialty interests in endocrine, metabolic and genetic disorders of bone. Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity on the International Space Station (NASA).

• Foreword Acknowledgments List of Contributors Section 1: INTRODUCTION Section 2: BONE BIOLOGY, STRUCTURE AND BIOCHEMISTRY Section 3: CLINICAL AND MOLECULAR GENETICS OF OSTEOGENESIS IMPERFECTA Section 4: COL1A1 AND COL1A2 MUTATIONS Section 5: ANIMAL MODELS OF OSTEOGENESIS IMPERFECTA Section 6: BRITTLE BONE OVERLAP PHENOTYPES: TGF-BETA MUTATIONS AND BONE Section 7: CLINICAL ASPECTS OF OSTEOGENESIS IMPERFECTA Section 8: ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA Chapter 9: ORTHOPEDICS Section 10: PHYSICAL MEDICINE AND REHABILITATION Section 11: PHARMACOLOGIC TREATMENT OF OSTEOGENESIS IMPERFECTA Section 12: GENETIC APPROACH TO TREATMENT OF OSTEOGENESIS IMPERFECTA Index

"Shapiro…, Byers, Glorieux, and Sponseller compile 58 chapters by an international group of orthopedists, geneticists, bone specialists, and other physicians and researchers, who describe osteogenesis imperfecta. They address the basic science and clinical practice, as well as future research and its relevance to treatment and care, for basic scientists and clinicians." --Reference & Research Book News, December 2013"A monumental nearly 600 page textbook about OI has recently been published. This comprehensive reference is a collection of chapters by an international group of physicians and researchers…Their goal was to bring together in one volume the latest information about the biochemistry, genetics, research questions and treatments available to manage OI in children and adults. A special feature is an advanced discussion of surgical techniques applicable to OI." --OI Foundation E-News, September 2013