Dr. White's research focuses primarily on the molecular genetics of metabolic bone diseases. He played an instrumental role in the positional cloning of the fibroblast growth factor-23 (FGF23) gene and determining that missense mutations in FGF23 are responsible for the human phosphate wasting disorder autosomal dominant hypophosphatemic rickets (ADHR).
FGF23 is over-produced by tumors that cause tumor induced osteomalacia (TIO), a syndrome that is similar to ADHR, indicating that FGF23 is a critical regulator of mineral metabolism. The roles of FGF23 as a growth factor in cancer are unknown, and we are attempting to understand FGF23 regulation in both rare and common disorders. FGF23 is also over produced in the setting of chronic kidney disease (CKD), leading to severe endocrine bone disease.
The experimental designs in Dr. White's lab are undertaken with regard to the long-term goal of application to human disorders as well as for understanding basic bone and renal cell biology. The study of these novel human mutations provides the opportunity to cross disciplines and to widen our understanding of skeletal biology as well as oncology.