The mission of the Metabolic Bone Disorders Unit is to enhance health and well-being for children with skeletal disorders by developing novel diagnostic tools and treatments informed by studies of physiologic mechanisms. Our work focuses on rare disorders of bone metabolism, specifically the complex bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome (FD/MAS). This mosaic disease results from gain-of-function mutations in Gαs, resulting in ligand-independent activation of G-protein coupled receptor/cAMP-dependent signaling pathways. Clinical observations from the care and study of patients with FD/MAS and other skeletal disorders create hypotheses based on unmet needs. Basic and translational studies investigating these hypotheses improve our understanding of skeletal physiology. By integrating across model systems, we apply this knowledge to enhance care and quality of life for patients. This approach has successfully characterized key aspects of FD/MAS pathophysiology, translated into clinical trials, and defined the current standard of patient care.
Dr Boyce completed her pediatric endocrinology fellowship training in the NICHD Program on Developmental Endocrinology and Genetics, and her pediatric residency and medical training at Eastern Virginia Medical School in Norfolk, Virginia. She has held current and previous faculty positions in the NIH Pediatric Endocrinology fellowship training program and Children’s National Hospital. She is active in the patient advocacy community and serves as a Medical Advisor to the FD/MAS Alliance.
- Geels RES, Meier ME, Saikali A, Tsonaka R, Appelman-Dijkstra NM, Boyce AM. Long Bone Fractures in Fibrous Dysplasia/McCune-Albright Syndrome: Prevalence, Natural History, and Risk Factors. J Bone Miner Res. 2022;37(2):236-243.
- Szymczuk V, Taylor J, Michel Z, Sinaii N, Boyce AM. Skeletal Disease Acquisition in Fibrous Dysplasia: Natural History and Indicators of Lesion Progression in Children. J Bone Miner Res. 2022;37(8):1473-1478.
- Florenzano P, Pan KS, Brown SM, Paul SM, Kushner H, Guthrie LC, de Castro LF, Collins MT, Boyce AM. Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone. J Bone Miner Res. 2019;34(4):653-660.
- Papadakis GZ, Manikis GC, Karantanas AH, Florenzano P, Bagci U, Marias K, Collins MT, Boyce AM. 18 F-NaF PET/CT IMAGING IN FIBROUS DYSPLASIA OF BONE. J Bone Miner Res. 2019;34(9):1619-1631.
- Pan KS, Heiss JD, Brown SM, Collins MT, Boyce AM. Chiari I Malformation and Basilar Invagination in Fibrous Dysplasia: Prevalence, Mechanisms, and Clinical Implications. J Bone Miner Res. 2018;33(11):1990-1998.
Related Scientific Focus Areas
Genetics and Genomics
This page was last updated on Friday, September 16, 2022