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.
- Zhadina M, Roszko KL, Geels RES, de Castro LF, Collins MT, Boyce AM. Genotype-phenotype correlation in fibrous dysplasia/McCune-Albright syndrome. Journal of Clinical Endocrinology and Metabolism, in press.
- Raborn LN, Pan KS, FitzGibbon EJ, Collins, MT, Boyce AM. Optic disc edema in fibrous dysplasia/McCune-Albright syndrome: prevalence, etiologies, and clinical implications. Bone, in press.
- Pan KS, FitzGibbon EJ, Vitale S, Lee JS, Collins, MT, Boyce AM. Utility of optical coherence tomography in the diagnosis and management of optic neuropathy in patients with fibrous dysplasia. Journal of Bone and Mineral Research, 2020 Nov;35(11):2199-2210.
- Weidner LD, Wakabayashi Y, Stolz LA, Collins MT, Guthrie L, Victorino M, Chung J, Miller W, Zoghbi SS, Pike VW, Fujita M, Innis RB, Boyce AM. PET imaging of phosphodiesterase-4 identifies affected dysplastic bone in McCune-Albright syndrome, a genetic mosaic disorder. Journal of Nuclear Medicine, 2020 Nov;61(11):1672-1677.
- Papadakis GZ, Manikis GC, Karantanas AH, Florenzano P, Bagci U, Marias K, Collins MT, Boyce AM. 18F-NaF PET/CT imaging in fibrous dysplasia of bone. Journal of Bone and Mineral Research, 2019 Sep;34(9):1619-1631.
- Pan KS, Heiss J, Brown S, Collins MT, Boyce AM. Chiari I malformation and basilar invagination in fibrous dysplasia: prevalence, mechanisms, and clinical implications. Journal of Bone and Mineral Research, 2018 Nov;33(11):1990-1998.