My general area of interest is the genetic aspects of metabolic bone disease. In this regard, I have performed clinical and basic studies of metabolic bone disorders. Much of my effort has focused on using positional cloning techniques to locate and clone genes that are responsible for these disorders. These efforts have led to the recent cloning of the PEX gene, which is responsible for X-linked hypophosphatemic rickets. Studies are currently underway to map and clone the genes responsible for autosomal dominant hypophosphatemic rickets and osteoporosis. We are also performing studies that focus on finding genes that play a role in determining peak bone mineral density.