Description of Research Expertise

My laboratory focuses on skeletal development, leveraging insights from developmental biology to better understand skeletal diseases and identify potential new treatments.

Early in my career, I cloned the human PTH/PTHrP receptor and its gene, uncovering that gain-of-function mutations in this receptor are responsible for Jansen Metaphyseal Chondrodysplasia—a severe form of short-limbed dwarfism associated with hypercalcemia. Using mouse models carrying these mutations, I contributed to defining the PTH/PTHrP receptor's critical role in skeletal biology.

Subsequently, I pioneered the concept that oxygen gradients regulate tissue morphogenesis during skeletal development. Beyond serving as a key metabolic substrate in enzymatic reactions such as mitochondrial respiration, oxygen also functions as a regulatory signal. My laboratory investigates how hypoxia and hypoxia-driven pathways influence skeletal development, aiming to uncover novel mechanisms of cellular adaptation to low oxygen levels and identify therapeutic targets for cartilage and bone diseases.
To achieve these goals, we employ genetically modified mouse models and a wide array of in vivo, ex vivo, and in vitro approaches to analyze phenotypes and elucidate the underlying biology.