Carolyn Macica’s study focused on a particularly debilitating complication of XLH, enthesopathy. She studied the progression and pathogenesis of the calcification of tendon and ligament insertion sites.
The Yale Center for X-Linked Hypophosphatemia launched its Pilot and Feasibility program in early 2008 with a request for applications. After peer review by eight national experts, the top three scoring proposals were selected for funding. The awardees received two years of funding for their studies under the NIAMS CORT funding mechanism.
The pilots brought two investigators with other established interests to the phosphate field, and allowed a young investigator with demonstrated expertise in the FGFR field to pursue a unique area of disease mechanism in a rare clinical form of hypophosphatemia.
Use of an animal model of Epidermal Nevus Syndrome to understand the mechanism of FGFR signaling in renal phosphate wasting syndromes
Veraragavan Eswarakumar focused on a rare phosphate wasting syndrome associated with FGF receptor dysfunction.
Gerald Shulman is a well-known clinical investigator in the field of carbohydrate metabolism and diabetes. His study examined the role of intracellular phosphate, as pertains to energy metabolism.