Carolyn Macica, assistant professor of medical sciences, studies the role of parathyroid hormone-related peptide as a regulator of Schwann cell myelination and in endochondral bone growth. Her work started while she was an assistant professor at Yale University in the Department of Internal Medicine/Division of Endocrinology.
She became very interested in metabolic bone disorders, namely the most common form of familial childhood rickets, X-linked hypophosphatemia (XLH). Her work focused on the study of the adult morbidities associated with XLH, a largely neglected area of study. While XLH is characterized by rickets and defective bone mineralization (osteomalacia), a paradoxical and severe mineralizing enthesopathy of tendon and ligament insertion sites and a degenerative osteoarthropathy develop in many adult patients. Her lab has provided valuable insight into the pathogenesis of the bone spurs and many questions remain including the elucidation of fibroblast growth factor signaling in osteocytes, the mechanosensor of the bone.
Macica was a leader in creating this year's XLH Day program, a patient advocacy and education event that was the first symposium to be held at the Frank H. Netter MD School of Medicine. The inclusion of an interprofessional panel of faculty from the School of Health Sciences and the School of Nursing brought with it the recognition that the medical school is uniquely positioned to support collaborations between the schools to ask some fundamental questions that have not been answered as it relates to XLH.
"I'm pretty excited to initiate studies with patients in collaboration with the Motion Analysis Laboratory to better understand the impact of the debilitating enthesopathy and calcifications have on gait, mobility and range of motion parameters. Both Juan Garbalosa (clinical associate professor of physical therapy and director of the Motion Analysis Lab) and I have recognized that this would create a great opportunity for our students from the diagnostic imaging, physical therapy and occupational therapy programs to create a truly interprofessional capstone project," Macica said.
The musculoskeletetal impact of XLH is effectively undocumented. Once published, it will bring to light the truly debilitating nature of a disorder that is largely perceived as a childhood disease by the medical community. Macica is considering the idea of a student working with Quinnipiac's interactive digital design program to digitally simulate changes in gait with the goal of providing more targeted adaptive equipment for the patients.
Macica continues her work within the spectrum of XLH. Her most recent collaboration with Dr. Steven Tommasini, an assistant professor in the Department of Orthopedics at the Yale School of Medicine, focuses on another area of XLH that has not been studied.
"We asked a very fundamental question about how females with XLH are able to contribute calcium and phosphate to the developing fetal skeleton and our findings in the murine model of the disease have built a new research program that we think will give insight to the mechanism of increased cortical porosity typical of both post-menopausal osteoporosis and in hyperparathyroidism. The data was well received at the recent American Society for Bone and Mineral Research annual meeting in Baltimore, MD. This would be a great opportunity for a student interested in pursuing a capstone concentration in translational research to provide a better understanding of cortical bone loss using this mouse model and to ultimately provide new targeted therapies for osteoporotic fractures," she said.
Macica looks forward to mentoring students in capstone projects or, as she puts it, "Long story short, I'm pretty excited about hanging a "Help Wanted" sign outside of my office!"
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