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Mary Ruppe, M.D.
assistant professor of internal medicine, MS
Research Work: Growth Determinants in X-linked Hypophosphatemic Rickets
Endocrinologist Mary Ruppe, M.D., is in the beginning stages of researching a rare, genetic disease that causes bowing of the legs, short stature, bone pain and dental deformities among growing children. X-linked hypophosphatemic rickets has an occurrence of one in every 20,000 births.
“I work with children and adults who are unable to properly handle phosphorus and vitamin D,” said Ruppe.
Phosphorus and vitamin D also play an important role in treating the disorder, which begins to show symptoms in the first year of life.
Ruppe uses molecular- based techniques to study blood, urine, bone and tooth samples from patients whose information is recorded in a clinical database. She said a highlight of her job is being able to combine her laboratory research with the clinical aspects of meeting and interacting with patients.
“I enjoy the challenges of combining research and clinical work,” Ruppe said. “I enjoy thinking about the complex issues that play a role in phosphorus and calcium metabolism. I like seeing the patients firsthand and then going to the lab and trying to better understand the mechanisms behind the disorder, so we can try to help the patients.”
Even though she is in the early stages of her work, Ruppe’s research shows promise of yielding important information on this rare disease. “I have seen that there are alterations in a newly discovered protein, fibroblast growth factor 23, during critical times of development in the patients,” she said. “I hope to gain a better understanding of the pathophysiology of X-linked hypophosphatemic rickets in order to gain insight into ways that we can treat patients to improve height attainment while minimizing therapeutic complications.”
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