Washington University in St. Louis (WU)
For the past 15 years I have focused on the causes, pathogenesis, and treatment of children with rare metabolic bone diseases and skeletal dysplasias. This period of my professional pursuits has included evaluating, studying and treating children and families with: a) dense bone disorders [the osteopetroses (OPTs) and constituitively expressed factors in WNT signaling — LRP5 and LRP6 resulting in high bone mass (HBM)]; b) heritable rickets or osteomalacia, particularly X-linked hypophosphatemia (XLH) and hypophosphatasia (HPP), c) fracture-prone bone diseases including osteogenesis imperfecta (OI) and idiopathic juvenile osteoporosis; d) single gene disorders of the RANKL/OPG/RANK/NF-?B signaling pathway, (e.g. juvenile Paget bone disease (PBD); and osteolytic skeletal disorders including Hajdu-Cheney syndrome and multicentric carpotarsal osteolysis (MCTO).