Molecular genetics of metabolic bone disorders

The White laboratory focuses on the molecular genetics of diseases associated with hyper- and hypophosphatemia and the resulting skeletal disease with a particular focus on the bone hormone FGF23 and interactions with its co-receptor alpha-Klotho (aKL). Work involves a unique FGF23 knock in animal model of autosomal dominant hypophosphatemia, as well as conditional and inducible genetic strains of mice.  His group also undertakes parallel in vitro cell culture work in tissues derived from transgenic mice and skeletal and renal cell lines.  Trainees coming through the White lab will undertake studies investigating the mechanisms underlying the target actions of FGF23 and a novel form or circulating aKL at the tissue level and through conditional in vivo approaches. Trainees will perform studies to test the regulation of FGF23 and aKL expression in bone and kidney cell models, respectively, including promoter and transcriptional assays. Trainees will also learn how to perform outcome measures in animal studies using biochemical analyses, dual-energy x-ray absorptiometry (DXA), and histomorphometrics, as well as a variety of hormone ELISAs. The goals of the in vitro studies performed by trainees is to provide comprehensive learning in luciferase and promoter (ChIP) studies, qPCR, ELISA,  and additional molecular techniques (including RNA extraction, qPCR, and site-directed mutagenesis).