Description of Research Expertise

I have a long-standing interest in the study of cartilage and bone development. Over the years, I have used cartilage and bone tissues as models to establish essential principles in the broader fields of receptor and hypoxia biology.

I cloned the human receptor for PTH and PTHrP and its gene. Moreover, I discovered that gain-of-function mutations of the PTH/PTHrP receptor result in Jansen Metaphyseal Chondrodysplasia, a severe form of short-limbed dwarfism associated with hypercalcemia. Jansen Metaphyseal Chondrodysplasia has been one of the first examples in the literature of a human disease being caused by a constitutively active G-protein coupled receptor.

Studying the fetal growth plate, I was intrigued by its avascularity; this simple observation prompted me to discover that the hypoxia-signaling pathway is essential in skeletal development. Oxygen is not only an indispensable metabolic substrate but also a regulatory signal. I pioneered the notion that gradients of oxygenation are crucial for tissue morphogenesis during skeletal development. My laboratory currently studies the role of the hypoxia signaling pathway in skeletal development and homeostasis with the overall goal of unveiling both novel aspects of the cellular adaptation to hypoxia and new avenues for the treatment of cartilage and bone diseases.